Canonical Allele Identifier: CA16042635
Gene: TAB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372702
ClinVar RCV Id: RCV000413501
dbSNP Id: rs1057517934

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.149378318C>T , CM000668.2:g.149378318C>T GRCh38
NC_000006.11:g.149699454C>T , CM000668.1:g.149699454C>T GRCh37
NC_000006.10:g.149741147C>T NCBI36
NG_021386.1:g.65019C>T
NG_021386.2:g.165395C>T

Transcript Alleles

HGVS Amino-acid change
NM_001292034.2:c.403C>T VV NP_001278963.1:p.Gln135Ter
NM_001292035.2:c.307C>T VV NP_001278964.1:p.Gln103Ter
NM_015093.5:c.403C>T VV NP_055908.1:p.Gln135Ter
XM_006715403.2:c.403C>T XP_006715466.1:p.Gln135Ter
XM_011535633.1:c.403C>T XP_011533935.1:p.Gln135Ter
XM_011535634.1:c.403C>T XP_011533936.1:p.Gln135Ter
XM_011535633.2:c.403C>T
XM_017010591.1:c.403C>T XP_016866080.1:p.Gln135Ter
XM_017010592.2:c.403C>T XP_016866081.1:p.Gln135Ter
NM_001292034.3:c.403C>T VV MANE Preferred
ENST00000367456.5:c.403C>T ENSP00000356426.1:p.Gln135Ter
ENST00000470466.5:c.403C>T ENSP00000432709.1:p.Gln135Ter
ENST00000538427.5:c.403C>T ENSP00000445752.1:p.Gln135Ter
ENST00000606202.1:c.181C>T ENSP00000476139.1:p.Gln61Ter