Canonical Allele Identifier: CA115316

Identifiers and link-outs to other resources

ClinVar Variation Id: 2062
ClinVar RCV Id: RCV000002143
dbSNP Id: rs237025

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.149400554G>A , CM000668.2:g.149400554G>A GRCh38
NC_000006.11:g.149721690G>A , CM000668.1:g.149721690G>A GRCh37
NC_000006.10:g.149763383G>A NCBI36
NG_012301.1:g.5196G>A
NG_021386.1:g.87255G>A
NG_021386.2:g.187631G>A

Transcript Alleles

HGVS Amino-acid change
NM_001002255.1:c.163G>A (SUMO4) VV NP_001002255.1:p.Val55Met
NM_001292034.2:c.1939+1370G>A (TAB2) VV NP_001278963.1:p.=
NM_001292035.2:c.1843+1370G>A (TAB2) VV NP_001278964.1:p.=
NM_015093.5:c.1939+1370G>A (TAB2) VV NP_055908.1:p.=
XM_006715403.2:c.1939+1370G>A (TAB2) XP_006715466.1:p.=
XM_011535633.1:c.1939+1370G>A (TAB2) XP_011533935.1:p.=
XM_011535634.1:c.1939+1370G>A (TAB2) XP_011533936.1:p.=
XM_011535633.2:c.1939+1370G>A (TAB2) XP_011533935.1:p.=
XM_017010591.1:c.1939+1370G>A (TAB2) XP_016866080.1:p.=
XM_017010592.2:c.1939+1370G>A (TAB2) XP_016866081.1:p.=
NM_001292034.3:c.1939+1370G>A (TAB2) VV NP_001278963.1:p.=
ENST00000326669.5:c.163G>A ENSP00000318635.4:p.Val55Met
ENST00000367456.5:c.1939+1370G>A ENSP00000356426.1:p.=
ENST00000470466.5:c.*538+1370G>A ENSP00000432709.1:p.=
ENST00000484505.1:n.452+1370G>A
ENST00000538427.5:c.1939+1370G>A ENSP00000445752.1:p.=