Canonical Allele Identifier: CA16042659

Gene: TAB2

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)

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