Canonical Allele Identifier: CA10602931
Gene: TAB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 280439
ClinVar RCV Id: RCV000266578
dbSNP Id: rs886041646
MyVariant Identifiers: chr6:g.149700437del (hg19) chr6:g.149379301del (hg38)
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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
ENST00000703212.1:n.1801del
ENST00000703213.1:c.1386del ENSP00000515239.1:p.Tyr462Ter
ENST00000636456.1:c.534del ENSP00000490379.1:p.Tyr178Ter
ENST00000637181.2:c.1386del MANE Select ENSP00000490618.1: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
NM_001292034.2:c.1386del NP_001278963.1:p.Tyr462Ter
NM_001292035.2:c.1290del NP_001278964.1:p.Tyr430Ter
NM_015093.5:c.1386del 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 MANE Select NP_001278963.1:p.Tyr462Ter
NM_001292035.3:c.1290del NP_001278964.1:p.Tyr430Ter
NM_001369506.1:c.1386del NP_001356435.1:p.Tyr462Ter
NM_015093.6:c.1386del NP_055908.1:p.Tyr462Ter
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