Canonical Allele Identifier: CA136662
Gene: GPSM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 45564
dbSNP Id: rs35089879

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108918719C>T , CM000663.2:g.108918719C>T GRCh38
NC_000001.10:g.109461341C>T , CM000663.1:g.109461341C>T GRCh37
NC_000001.9:g.109262864C>T NCBI36
NG_028108.1:g.46739C>T
NG_028108.2:g.48370C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264126.9:c.1370C>T MANE Select ENSP00000264126.3:p.Thr457Met
ENST00000357393.6:c.-1+44642G>A ENSP00000349968.6:p.=
ENST00000441735.2:c.1370C>T ENSP00000390629.2:p.Thr457Met
ENST00000446797.2:c.1370C>T ENSP00000392138.2:p.Thr457Met
ENST00000642355.1:c.1370C>T ENSP00000496104.1:p.Thr457Met
ENST00000643643.1:n.459C>T
ENST00000645164.2:c.1370C>T ENSP00000496756.2:p.Thr457Met
ENST00000674700.1:c.1313C>T ENSP00000501743.1:p.Thr438Met
ENST00000674731.1:c.*87C>T ENSP00000502401.1:p.=
ENST00000674914.1:c.1421C>T ENSP00000501579.1:p.Thr474Met
ENST00000675086.1:c.1264-3698C>T ENSP00000502476.1:p.=
ENST00000675087.1:c.1421C>T ENSP00000502020.1:p.Thr474Met
ENST00000675740.1:n.1145C>T
ENST00000676184.1:c.1370C>T ENSP00000502178.1:p.Thr457Met
ENST00000676404.1:c.1313C>T ENSP00000502346.1:p.Thr438Met
ENST00000264126.7:c.1370C>T ENSP00000264126.3:p.Thr457Met
ENST00000357393.5:c.114+44642G>A ENSP00000349968.5:p.=
ENST00000406462.6:c.1370C>T ENSP00000385510.1:p.Thr457Met
ENST00000441735.1:n.139C>T
NM_013296.4:c.1370C>T NP_037428.3:p.Thr457Met
XM_005270787.2:c.1370C>T XP_005270844.1:p.Thr457Met
XM_006710589.1:c.1313C>T XP_006710652.1:p.Thr438Met
XM_011541301.1:c.1370C>T XP_011539603.1:p.Thr457Met
XM_011541302.1:c.1370C>T XP_011539604.1:p.Thr457Met
NM_001321038.1:c.1370C>T NP_001307967.1:p.Thr457Met
NM_001321039.1:c.1370C>T NP_001307968.1:p.Thr457Met
XM_006710589.3:c.1313C>T XP_006710652.1:p.Thr438Met
XM_011541301.2:c.1370C>T XP_011539603.1:p.Thr457Met
XM_011541302.3:c.1370C>T XP_011539604.1:p.Thr457Met
XM_017001097.2:c.1370C>T XP_016856586.1:p.Thr457Met
XM_017001098.2:c.1370C>T XP_016856587.1:p.Thr457Met
NM_013296.5:c.1370C>T MANE Select NP_037428.3:p.Thr457Met
NM_001321038.2:c.1370C>T NP_001307967.1:p.Thr457Met
NM_001321039.2:c.1370C>T NP_001307968.1:p.Thr457Met
NM_001321039.3:c.1370C>T NP_001307968.1:p.Thr457Met