Canonical Allele Identifier: CA2586969028
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531384del , CM000664.2:g.31531384del GRCh38
NC_000002.11:g.31756454del , CM000664.1:g.31756454del GRCh37
NC_000002.10:g.31609958del NCBI36
NG_008365.1:g.54588del

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.534del MANE Select ENSP00000477587.1:p.Tyr178Ter
ENST00000622030.1:c.534del ENSP00000477587.1:p.Tyr178Ter
NM_000348.3:c.534del NP_000339.2:p.Tyr178Ter
XM_011533069.1:c.312del XP_011531371.1:p.Tyr104Ter
XM_011533070.1:c.279del XP_011531372.1:p.Tyr93Ter
XM_011533071.1:c.279del XP_011531373.1:p.Tyr93Ter
XM_011533072.1:c.279del XP_011531374.1:p.Tyr93Ter
XM_011533069.2:c.312del XP_011531371.1:p.Tyr104Ter
XM_011533072.2:c.279del XP_011531374.1:p.Tyr93Ter
NM_000348.4:c.534del MANE Select NP_000339.2:p.Tyr178Ter