Canonical Allele Identifier: CA425567667
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1160969613
gnomAD v3: 2-31531453-C-T
gnomAD v4: 2-31531453-C-T
MyVariant Identifiers: chr2:g.31756523C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531453C>T , CM000664.2:g.31531453C>T GRCh38
NC_000002.11:g.31756523C>T , CM000664.1:g.31756523C>T GRCh37
NC_000002.10:g.31610027C>T NCBI36
NG_008365.1:g.54519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.465G>A MANE Select ENSP00000477587.1:p.Leu155=
ENST00000622030.1:c.465G>A ENSP00000477587.1:p.Leu155=
NM_000348.3:c.465G>A NP_000339.2:p.Leu155=
XM_011533069.1:c.243G>A XP_011531371.1:p.Leu81=
XM_011533070.1:c.210G>A XP_011531372.1:p.Leu70=
XM_011533071.1:c.210G>A XP_011531373.1:p.Leu70=
XM_011533072.1:c.210G>A XP_011531374.1:p.Leu70=
XM_011533069.2:c.243G>A XP_011531371.1:p.Leu81=
XM_011533072.2:c.210G>A XP_011531374.1:p.Leu70=
NM_000348.4:c.465G>A MANE Select NP_000339.2:p.Leu155=