Canonical Allele Identifier: CA10602931
Gene: TAB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 280439
ClinVar RCV Id: RCV000266578
dbSNP Id: rs886041646

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.149379301del , CM000668.2:g.149379301del GRCh38
NC_000006.11:g.149700437del , CM000668.1:g.149700437del GRCh37
NC_000006.10:g.149742130del NCBI36
NG_021386.1:g.66002del
NG_021386.2:g.166378del

Transcript Alleles

HGVS Amino-acid change
NM_001292034.2:c.1386del VV NP_001278963.1:p.Tyr462Ter
NM_001292035.2:c.1290del VV NP_001278964.1:p.Tyr430Ter
NM_015093.5:c.1386del VV NP_055908.1:p.Tyr462Ter
XM_006715403.2:c.1386del XP_006715466.1:p.Tyr462Ter
XM_011535633.1:c.1386del XP_011533935.1:p.Tyr462Ter
XM_011535634.1:c.1386del XP_011533936.1:p.Tyr462Ter
XM_011535633.2:c.1386del XP_011533935.1:p.Tyr462Ter
XM_017010591.1:c.1386del XP_016866080.1:p.Tyr462Ter
XM_017010592.2:c.1386del XP_016866081.1:p.Tyr462Ter
NM_001292034.3:c.1386del VV MANE Preferred NP_001278963.1:p.Tyr462Ter
ENST00000367456.5:c.1386del ENSP00000356426.1:p.Tyr462Ter
ENST00000470466.5:c.1386del ENSP00000432709.1:p.Tyr462Ter
ENST00000538427.5:c.1386del ENSP00000445752.1:p.Tyr462Ter