Canonical Allele Identifier: CA340076
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3343
ClinVar RCV Id: RCV000003507
dbSNP Id: rs587776567

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526208del , CM000664.2:g.31526208del GRCh38
NC_000002.11:g.31751278del , CM000664.1:g.31751278del GRCh37
NC_000002.10:g.31604782del NCBI36
NG_008365.1:g.59764del

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.753del MANE Select ENSP00000477587.1:p.Phe252SerfsTer27
ENST00000622030.1:c.753del ENSP00000477587.1:p.Phe252SerfsTer27
NM_000348.3:c.753del NP_000339.2:p.Phe252SerfsTer27
XM_011533069.1:c.531del XP_011531371.1:p.Phe178SerfsTer27
XM_011533070.1:c.498del XP_011531372.1:p.Phe167SerfsTer27
XM_011533071.1:c.498del XP_011531373.1:p.Phe167SerfsTer27
XM_011533072.1:c.498del XP_011531374.1:p.Phe167SerfsTer27
XM_011533069.2:c.531del XP_011531371.1:p.Phe178SerfsTer27
XM_011533072.2:c.498del XP_011531374.1:p.Phe167SerfsTer27
NM_000348.4:c.753del MANE Select NP_000339.2:p.Phe252SerfsTer27