Canonical Allele Identifier: CA149917633

Gene: TAB2

Linked Data

• ClinVar Variation Id: 2573884
• ClinVar RCV Id: RCV003318220
• dbSNP Id: rs977375547
• gnomAD v2: 6-149700443-C-G
• gnomAD v3: 6-149379307-C-G
• gnomAD v4: 6-149379307-C-G
• MyVariant Identifiers: chr6:g.149700443C>G (hg19) ; chr6:g.149379307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.149379307C>G , CM000668.2:g.149379307C>G	GRCh38
NC_000006.11:g.149700443C>G , CM000668.1:g.149700443C>G	GRCh37
NC_000006.10:g.149742136C>G	NCBI36
NG_021386.1:g.66008C>G
NG_021386.2:g.166384C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703212.1:n.1807C>G
ENST00000703213.1:c.1392C>G	ENSP00000515239.1:p.Phe464Leu
ENST00000636456.1:c.540C>G	ENSP00000490379.1:p.Phe180Leu
ENST00000637181.2:c.1392C>G MANE Select	ENSP00000490618.1:p.Phe464Leu
ENST00000367456.5:c.1392C>G	ENSP00000356426.1:p.Phe464Leu
ENST00000470466.5:c.1392C>G	ENSP00000432709.1:p.Phe464Leu
ENST00000538427.5:c.1392C>G	ENSP00000445752.1:p.Phe464Leu
NM_001292034.2:c.1392C>G	NP_001278963.1:p.Phe464Leu
NM_001292035.2:c.1296C>G	NP_001278964.1:p.Phe432Leu
NM_015093.5:c.1392C>G	NP_055908.1:p.Phe464Leu
XM_006715403.2:c.1392C>G	XP_006715466.1:p.Phe464Leu
XM_011535633.1:c.1392C>G	XP_011533935.1:p.Phe464Leu
XM_011535634.1:c.1392C>G	XP_011533936.1:p.Phe464Leu
XM_011535633.2:c.1392C>G	XP_011533935.1:p.Phe464Leu
XM_017010591.1:c.1392C>G	XP_016866080.1:p.Phe464Leu
XM_017010592.2:c.1392C>G	XP_016866081.1:p.Phe464Leu
NM_001292034.3:c.1392C>G MANE Select	NP_001278963.1:p.Phe464Leu
NM_001292035.3:c.1296C>G	NP_001278964.1:p.Phe432Leu
NM_001369506.1:c.1392C>G	NP_001356435.1:p.Phe464Leu
NM_015093.6:c.1392C>G	NP_055908.1:p.Phe464Leu