Canonical Allele Identifier: CA1671916263
Gene: TAB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 996746
ClinVar RCV Id: RCV001291526
dbSNP Id: rs1781524947

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.149379313dup , CM000668.2:g.149379313dup GRCh38
NC_000006.11:g.149700449dup , CM000668.1:g.149700449dup GRCh37
NC_000006.10:g.149742142dup NCBI36
NG_021386.1:g.66014dup
NG_021386.2:g.166390dup

Transcript Alleles

HGVS Amino-acid change
ENST00000703212.1:n.1813dup
ENST00000703213.1:c.1398dup ENSP00000515239.1:p.Thr467TyrfsTer6
ENST00000636456.1:c.546dup ENSP00000490379.1:p.Thr183TyrfsTer6
ENST00000637181.2:c.1398dup MANE Select ENSP00000490618.1:p.Thr467TyrfsTer6
ENST00000367456.5:c.1398dup ENSP00000356426.1:p.Thr467TyrfsTer6
ENST00000470466.5:c.1398dup ENSP00000432709.1:p.Thr467TyrfsTer6
ENST00000538427.5:c.1398dup ENSP00000445752.1:p.Thr467TyrfsTer6
NM_001292034.2:c.1398dup NP_001278963.1:p.Thr467TyrfsTer6
NM_001292035.2:c.1302dup NP_001278964.1:p.Thr435TyrfsTer6
NM_015093.5:c.1398dup NP_055908.1:p.Thr467TyrfsTer6
XM_006715403.2:c.1398dup XP_006715466.1:p.Thr467TyrfsTer6
XM_011535633.1:c.1398dup XP_011533935.1:p.Thr467TyrfsTer6
XM_011535634.1:c.1398dup XP_011533936.1:p.Thr467TyrfsTer6
XM_011535633.2:c.1398dup XP_011533935.1:p.Thr467TyrfsTer6
XM_017010591.1:c.1398dup XP_016866080.1:p.Thr467TyrfsTer6
XM_017010592.2:c.1398dup XP_016866081.1:p.Thr467TyrfsTer6
NM_001292034.3:c.1398dup MANE Select NP_001278963.1:p.Thr467TyrfsTer6
NM_001292035.3:c.1302dup NP_001278964.1:p.Thr435TyrfsTer6
NM_001369506.1:c.1398dup NP_001356435.1:p.Thr467TyrfsTer6
NM_015093.6:c.1398dup NP_055908.1:p.Thr467TyrfsTer6