Canonical Allele Identifier: CA16042659
Gene: TAB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373443
ClinVar RCV Id: RCV000412798 RCV000626800
dbSNP Id: rs1057518422
MyVariant Identifiers: chr6:g.149700090C>T (hg19) chr6:g.149378954C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.149378954C>T , CM000668.2:g.149378954C>T GRCh38
NC_000006.11:g.149700090C>T , CM000668.1:g.149700090C>T GRCh37
NC_000006.10:g.149741783C>T NCBI36
NG_021386.1:g.65655C>T
NG_021386.2:g.166031C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703212.1:n.1454C>T
ENST00000703213.1:c.1039C>T ENSP00000515239.1:p.Arg347Ter
ENST00000636456.1:c.187C>T ENSP00000490379.1:p.Arg63Ter
ENST00000637181.2:c.1039C>T MANE Select ENSP00000490618.1:p.Arg347Ter
ENST00000367456.5:c.1039C>T ENSP00000356426.1:p.Arg347Ter
ENST00000470466.5:c.1039C>T ENSP00000432709.1:p.Arg347Ter
ENST00000538427.5:c.1039C>T ENSP00000445752.1:p.Arg347Ter
NM_001292034.2:c.1039C>T NP_001278963.1:p.Arg347Ter
NM_001292035.2:c.943C>T NP_001278964.1:p.Arg315Ter
NM_015093.5:c.1039C>T NP_055908.1:p.Arg347Ter
XM_006715403.2:c.1039C>T XP_006715466.1:p.Arg347Ter
XM_011535633.1:c.1039C>T XP_011533935.1:p.Arg347Ter
XM_011535634.1:c.1039C>T XP_011533936.1:p.Arg347Ter
XM_011535633.2:c.1039C>T XP_011533935.1:p.Arg347Ter
XM_017010591.1:c.1039C>T XP_016866080.1:p.Arg347Ter
XM_017010592.2:c.1039C>T XP_016866081.1:p.Arg347Ter
NM_001292034.3:c.1039C>T MANE Select NP_001278963.1:p.Arg347Ter
NM_001292035.3:c.943C>T NP_001278964.1:p.Arg315Ter
NM_001369506.1:c.1039C>T NP_001356435.1:p.Arg347Ter
NM_015093.6:c.1039C>T NP_055908.1:p.Arg347Ter
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