| geneid | 57505 |
|---|---|
| ensemblid | ENSG00000124608.5 |
| hgncid | 21022 |
| symbol | AARS2 |
| name | alanyl-tRNA synthetase 2, mitochondrial |
| refseq_nuc | NM_020745.4 |
| refseq_prot | NP_065796.2 |
| ensembl_nuc | ENST00000244571.5 |
| ensembl_prot | ENSP00000244571.4 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 44298731 |
| end | 44313347 |
| strand | - |
| ver | v1.2 |
| region | chr6:44298731-44313347 |
| region5000 | chr6:44293731-44318347 |
| regionname0 | AARS2_chr6_44298731_44313347 |
| regionname5000 | AARS2_chr6_44293731_44318347 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44304645
|
C | T | 0.0101 | splice_region_variant others(1): Show |
LOW | HG00673.hp2 HG01884.hp1 HG03831.hp1 others(1): Show |
a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0023a0002c0006t0004g0049 | 4 | 396 | 0 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 12/22 | c.1752G>A | p.Glu584Glu | 1776/4798 | 1752/2958 | 584/985 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:44299913
|
T | TAGGGCAC others(7): Show |
0.9823 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(386): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(91): Show | 389 | 396 | 14 | AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | c.*633_*634insGGTATGGGTGCCCT | 633 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 1/0 | a0002 | 985 | 37 | 32 | 1 | 1 | 0 | 2 | subcellular location copy fasta | chr6 | 44293731 | 44318347 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/0 | c0006 | 2958 | 4 | 1 | 0 | 1 | 0 | 2 | copy fasta | chr6 | 44293731 | 44318347 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/0 | t0004 | 1855 | 29 | 25 | 1 | 1 | 0 | 2 | copy fasta | chr6 | 44293731 | 44318347 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/0 | g0023 | 3 | 1 | 0 | 1 | 0 | 1 | chr6 | 44293731 | 44318347 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/0 | a0002c0006 | 4 | 1 | 0 | 1 | 0 | 2 | 2958 | copy fasta | chr6 | 44293731 | 44318347 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/0 | a0002c0006t0004 | 4 | 1 | 0 | 1 | 0 | 2 | 4812 | copy fasta | chr6 | 44293731 | 44318347 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS2 | 0/0 | a0002c0006t0004g0023 | 3 | 1 | 0 | 1 | 0 | 1 | chr6 | 44293731 | 44318347 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 44313081 | - | 1 | -0.8638 | -0.8586 | -0.8586 | 0.0052 | acceptor | a0002c0006t0004g0023 | HG01884.hp1 | HG00673.hp2 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44312072 | - | 2 | -0.9940 | -0.9940 | -0.9939 | 0.0001 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG03942.hp2 |
HG01884.hp1 | AARS2 | chr6 | 44293731 | 44318347 |
| 44312263 | - | 2 | 0.9920 | 0.9920 | 0.9919 | 0.0001 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG03942.hp2 |
HG01884.hp1 | AARS2 | chr6 | 44293731 | 44318347 |
| 44311390 | - | 3 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG01884.hp1 | HG00673.hp2 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44311535 | - | 3 | 0.9931 | 0.9931 | 0.9931 | 0.0000 | donor | a0002c0006t0004g0023 | HG01884.hp1 | HG00673.hp2 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310994 | - | 4 | -0.9912 | -0.9912 | -0.9912 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG01884.hp1 | HG00673.hp2 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44311161 | - | 4 | 0.9902 | 0.9901 | 0.9901 | 0.0000 | donor | a0002c0006t0004g0023 | HG01884.hp1 | HG00673.hp2 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310299 | - | 5 | -0.9956 | -0.9956 | -0.9956 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44310443 | - | 5 | 0.9131 | 0.9131 | 0.9130 | 0.0001 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG03942.hp2 |
HG01884.hp1 | AARS2 | chr6 | 44293731 | 44318347 |
| 44307249 | - | 6 | -0.8217 | -0.8216 | -0.8217 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44307394 | - | 6 | 0.9018 | 0.9018 | 0.9018 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306923 | - | 7 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44307031 | - | 7 | 0.9849 | 0.9849 | 0.9849 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306494 | - | 8 | -0.9184 | -0.9184 | -0.9184 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306532 | - | 8 | 0.9621 | 0.9621 | 0.9621 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306280 | - | 9 | -0.9990 | -0.9990 | -0.9990 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44306391 | - | 9 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305653 | - | 10 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305786 | - | 10 | 0.9982 | 0.9982 | 0.9982 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305054 | - | 11 | -0.9692 | -0.9692 | -0.9692 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44305198 | - | 11 | 0.9898 | 0.9898 | 0.9898 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304645 | - | 12 | -0.9913 | -0.9913 | -0.9913 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304817 | - | 12 | 0.9894 | 0.9894 | 0.9894 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304420 | - | 13 | -0.9914 | -0.9914 | -0.9914 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304533 | - | 13 | 0.9906 | 0.9906 | 0.9906 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304181 | - | 14 | -0.9014 | -0.9014 | -0.9014 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44304321 | - | 14 | 0.5749 | 0.5749 | 0.5749 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303286 | - | 15 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303423 | - | 15 | 0.9995 | 0.9995 | 0.9995 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303066 | - | 16 | -0.9599 | -0.9599 | -0.9599 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44303175 | - | 16 | 0.9542 | 0.9542 | 0.9542 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302802 | - | 17 | -0.9982 | -0.9981 | -0.9982 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302910 | - | 17 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302391 | - | 18 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302513 | - | 18 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302060 | - | 19 | -0.9961 | -0.9961 | -0.9961 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44302170 | - | 19 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301381 | - | 20 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301464 | - | 20 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301156 | - | 21 | -0.9460 | -0.9460 | -0.9460 | 0.0000 | acceptor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44301266 | - | 21 | 0.9712 | 0.9712 | 0.9712 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| 44300711 | - | 22 | 0.6141 | 0.6141 | 0.6141 | 0.0000 | donor | a0002c0006t0004g0023 | HG00673.hp2 HG01884.hp1 HG03942.hp2 |
HG00673.hp2 HG01884.hp1 HG03942.hp2 |
AARS2 | chr6 | 44293731 | 44318347 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 44299913:splice 44299913:variant goto | c.*633_*634insGGTATGGGTGCCCT | 357043 | Benign | POLR1C:9533 AARS2:57505 |
SO:0001624 3_prime_UTR_variant |
MONDO:MONDO:0000732 MedGen:C4540031 OMIM:PS609060 |
- | 14 | 21 | 36 | 94 | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0002a0001c0011a0001c0018a0001c0020others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006a0001c0001t0011a0001c0001t0014others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0015others(89): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(384): Show |
MODIFIER | chr6 | T | TAGGGCAC others(7): Show |
TogoVar |
| 44304645:splice 44304645:variant goto | c.1752G>Ap.Glu584Glu | 136231 | Benign/Likely_benign | AARS2:57505 | SO:0001819 synonymous_variant |
MONDO:MONDO:0013570 MedGen:C4518839 OMIM:614096 Orphanet:319504|MedGen:CN169374|.|MONDO:MONDO:0014387 MedGen:C4014588 others(2): Show |
- | 1 | 1 | 1 | 2 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0023a0002c0006t0004g0049 | HG00673.hp2 HG01884.hp1 HG03831.hp1 HG03942.hp2 |
LOW | chr6 | C | T | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|