Canonical Allele Identifier: CA425567473

Gene: SRD5A2

Linked Data

• dbSNP Id: rs61750399
• gnomAD v3: 2-31529420-G-C
• gnomAD v4: 2-31529420-G-C
• MyVariant Identifiers: chr2:g.31754490G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529420G>C , CM000664.2:g.31529420G>C	GRCh38
NC_000002.11:g.31754490G>C , CM000664.1:g.31754490G>C	GRCh37
NC_000002.10:g.31607994G>C	NCBI36
NG_008365.1:g.56552C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.585C>G MANE Select	ENSP00000477587.1:p.Leu195=
ENST00000622030.1:c.585C>G	ENSP00000477587.1:p.Leu195=
NM_000348.3:c.585C>G	NP_000339.2:p.Leu195=
XM_011533069.1:c.363C>G	XP_011531371.1:p.Leu121=
XM_011533070.1:c.330C>G	XP_011531372.1:p.Leu110=
XM_011533071.1:c.330C>G	XP_011531373.1:p.Leu110=
XM_011533072.1:c.330C>G	XP_011531374.1:p.Leu110=
XM_011533069.2:c.363C>G	XP_011531371.1:p.Leu121=
XM_011533072.2:c.330C>G	XP_011531374.1:p.Leu110=
NM_000348.4:c.585C>G MANE Select	NP_000339.2:p.Leu195=