Canonical Allele Identifier: CA365998182

Gene: TAB2

Linked Data

• ClinVar Variation Id: 2662135
• ClinVar RCV Id: RCV003443630
• dbSNP Id: rs1224456405
• gnomAD v3: 6-149379120-G-A
• gnomAD v4: 6-149379120-G-A
• COSMIC: COSM3858972
• MyVariant Identifiers: chr6:g.149700256G>A (hg19) ; chr6:g.149379120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.149379120G>A , CM000668.2:g.149379120G>A	GRCh38
NC_000006.11:g.149700256G>A , CM000668.1:g.149700256G>A	GRCh37
NC_000006.10:g.149741949G>A	NCBI36
NG_021386.1:g.65821G>A
NG_021386.2:g.166197G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703212.1:n.1620G>A
ENST00000703213.1:c.1205G>A	ENSP00000515239.1:p.Arg402Gln
ENST00000636456.1:c.353G>A	ENSP00000490379.1:p.Arg118Gln
ENST00000637181.2:c.1205G>A MANE Select	ENSP00000490618.1:p.Arg402Gln
ENST00000367456.5:c.1205G>A	ENSP00000356426.1:p.Arg402Gln
ENST00000470466.5:c.1205G>A	ENSP00000432709.1:p.Arg402Gln
ENST00000538427.5:c.1205G>A	ENSP00000445752.1:p.Arg402Gln
NM_001292034.2:c.1205G>A	NP_001278963.1:p.Arg402Gln
NM_001292035.2:c.1109G>A	NP_001278964.1:p.Arg370Gln
NM_015093.5:c.1205G>A	NP_055908.1:p.Arg402Gln
XM_006715403.2:c.1205G>A	XP_006715466.1:p.Arg402Gln
XM_011535633.1:c.1205G>A	XP_011533935.1:p.Arg402Gln
XM_011535634.1:c.1205G>A	XP_011533936.1:p.Arg402Gln
XM_011535633.2:c.1205G>A	XP_011533935.1:p.Arg402Gln
XM_017010591.1:c.1205G>A	XP_016866080.1:p.Arg402Gln
XM_017010592.2:c.1205G>A	XP_016866081.1:p.Arg402Gln
NM_001292034.3:c.1205G>A MANE Select	NP_001278963.1:p.Arg402Gln
NM_001292035.3:c.1109G>A	NP_001278964.1:p.Arg370Gln
NM_001369506.1:c.1205G>A	NP_001356435.1:p.Arg402Gln
NM_015093.6:c.1205G>A	NP_055908.1:p.Arg402Gln