geneid | 440387 |
---|---|
ensemblid | ENSG00000168928.13 |
hgncid | 2522 |
symbol | CTRB2 |
name | chymotrypsinogen B2 |
refseq_nuc | NM_001025200.4 |
refseq_prot | NP_001020371.3 |
ensembl_nuc | ENST00000303037.13 |
ensembl_prot | ENSP00000303963.8 |
mane_status | MANE Select |
chr | chr16 |
start | 75204103 |
end | 75207161 |
strand | - |
ver | v1.2 |
region | chr16:75204103-75207161 |
region5000 | chr16:75199103-75212161 |
regionname0 | CTRB2_chr16_75204103_75207161 |
regionname5000 | CTRB2_chr16_75199103_75212161 |
ahapid | 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
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 263 | 6 | 0 | 4 | 0 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | copy fasta | chr16 | 75199103 | 75212161 |
chapid | 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
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/1 | 792 | 6 | 0 | 4 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | copy fasta | chr16 | 75199103 | 75212161 |
thapid | grch38chm13v2 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
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 79 | 6 | 0 | 4 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | copy fasta | chr16 | 75199103 | 75212161 |
ghapid | 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
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 1/0 | 3 | 0 | 2 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
g0002 | 0/1 | 3 | 0 | 2 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
achapid | 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
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 792 | 6 | 0 | 4 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | copy fasta | chr16 | 75199103 | 75212161 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 870 | 6 | 0 | 4 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | copy fasta | chr16 | 75199103 | 75212161 |
actghapid | 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
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 1/0 | 3 | 0 | 2 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
a0001c0001t0001g0002 | 0/1 | 3 | 0 | 2 | 0 | 0 | 0 | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00735 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
HG01192 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0002 | REF | REF | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | CTRB2_chr16_75199103_75212161 | CTRB2 | chr16 | 75199103 | 75212161 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|
chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:75205262
|
A | AGCCAAAC others(7): Show |
1 | a0001c0001t0001g0002 | 3 | HG00735.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.496+70_496+71insGC others(12): Show |
CTRB2 | ENSG00000168928.13 | transcript | ENST00000303037.13 | protein_coding | 5/6 | chr16 | 75205262 | ||||||
chr16:75205276
|
G | A | 1 | a0001c0001t0001g0002 | 3 | HG00735.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.496+57C>T | CTRB2 | ENSG00000168928.13 | transcript | ENST00000303037.13 | protein_coding | 5/6 | chr16 | 75205276 | ||||||
chr16:75205289
|
G | A | 1 | a0001c0001t0001g0002 | 3 | HG00735.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.496+44C>T | CTRB2 | ENSG00000168928.13 | transcript | ENST00000303037.13 | protein_coding | 5/6 | chr16 | 75205289 |