Canonical Allele Identifier: CA365998024

Gene: TAB2

Linked Data

• gnomAD v4: 6-149379046-T-G
• MyVariant Identifiers: chr6:g.149700182T>G (hg19) ; chr6:g.149379046T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.149379046T>G , CM000668.2:g.149379046T>G	GRCh38
NC_000006.11:g.149700182T>G , CM000668.1:g.149700182T>G	GRCh37
NC_000006.10:g.149741875T>G	NCBI36
NG_021386.1:g.65747T>G
NG_021386.2:g.166123T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703212.1:n.1546T>G
ENST00000703213.1:c.1131T>G	ENSP00000515239.1:p.Asp377Glu
ENST00000636456.1:c.279T>G	ENSP00000490379.1:p.Asp93Glu
ENST00000637181.2:c.1131T>G MANE Select	ENSP00000490618.1:p.Asp377Glu
ENST00000367456.5:c.1131T>G	ENSP00000356426.1:p.Asp377Glu
ENST00000470466.5:c.1131T>G	ENSP00000432709.1:p.Asp377Glu
ENST00000538427.5:c.1131T>G	ENSP00000445752.1:p.Asp377Glu
NM_001292034.2:c.1131T>G	NP_001278963.1:p.Asp377Glu
NM_001292035.2:c.1035T>G	NP_001278964.1:p.Asp345Glu
NM_015093.5:c.1131T>G	NP_055908.1:p.Asp377Glu
XM_006715403.2:c.1131T>G	XP_006715466.1:p.Asp377Glu
XM_011535633.1:c.1131T>G	XP_011533935.1:p.Asp377Glu
XM_011535634.1:c.1131T>G	XP_011533936.1:p.Asp377Glu
XM_011535633.2:c.1131T>G	XP_011533935.1:p.Asp377Glu
XM_017010591.1:c.1131T>G	XP_016866080.1:p.Asp377Glu
XM_017010592.2:c.1131T>G	XP_016866081.1:p.Asp377Glu
NM_001292034.3:c.1131T>G MANE Select	NP_001278963.1:p.Asp377Glu
NM_001292035.3:c.1035T>G	NP_001278964.1:p.Asp345Glu
NM_001369506.1:c.1131T>G	NP_001356435.1:p.Asp377Glu
NM_015093.6:c.1131T>G	NP_055908.1:p.Asp377Glu