Canonical Allele Identifier: CA365999328

Gene: TAB2

Linked Data

• gnomAD v4: 6-149379305-T-C
• MyVariant Identifiers: chr6:g.149700441T>C (hg19) ; chr6:g.149379305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.149379305T>C , CM000668.2:g.149379305T>C	GRCh38
NC_000006.11:g.149700441T>C , CM000668.1:g.149700441T>C	GRCh37
NC_000006.10:g.149742134T>C	NCBI36
NG_021386.1:g.66006T>C
NG_021386.2:g.166382T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703212.1:n.1805T>C
ENST00000703213.1:c.1390T>C	ENSP00000515239.1:p.Phe464Leu
ENST00000636456.1:c.538T>C	ENSP00000490379.1:p.Phe180Leu
ENST00000637181.2:c.1390T>C MANE Select	ENSP00000490618.1:p.Phe464Leu
ENST00000367456.5:c.1390T>C	ENSP00000356426.1:p.Phe464Leu
ENST00000470466.5:c.1390T>C	ENSP00000432709.1:p.Phe464Leu
ENST00000538427.5:c.1390T>C	ENSP00000445752.1:p.Phe464Leu
NM_001292034.2:c.1390T>C	NP_001278963.1:p.Phe464Leu
NM_001292035.2:c.1294T>C	NP_001278964.1:p.Phe432Leu
NM_015093.5:c.1390T>C	NP_055908.1:p.Phe464Leu
XM_006715403.2:c.1390T>C	XP_006715466.1:p.Phe464Leu
XM_011535633.1:c.1390T>C	XP_011533935.1:p.Phe464Leu
XM_011535634.1:c.1390T>C	XP_011533936.1:p.Phe464Leu
XM_011535633.2:c.1390T>C	XP_011533935.1:p.Phe464Leu
XM_017010591.1:c.1390T>C	XP_016866080.1:p.Phe464Leu
XM_017010592.2:c.1390T>C	XP_016866081.1:p.Phe464Leu
NM_001292034.3:c.1390T>C MANE Select	NP_001278963.1:p.Phe464Leu
NM_001292035.3:c.1294T>C	NP_001278964.1:p.Phe432Leu
NM_001369506.1:c.1390T>C	NP_001356435.1:p.Phe464Leu
NM_015093.6:c.1390T>C	NP_055908.1:p.Phe464Leu