Canonical Allele Identifier: CA1599870

Gene: SRD5A2

Linked Data

• dbSNP Id: rs371607671
• ExAC: 2:31754405 G / C
• gnomAD v2: 2-31754405-G-C
• gnomAD v3: 2-31529335-G-C
• gnomAD v4: 2-31529335-G-C
• MyVariant Identifiers: chr2:g.31754405G>C (hg19) ; chr2:g.31529335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529335G>C , CM000664.2:g.31529335G>C	GRCh38
NC_000002.11:g.31754405G>C , CM000664.1:g.31754405G>C	GRCh37
NC_000002.10:g.31607909G>C	NCBI36
NG_008365.1:g.56637C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.670C>G MANE Select	ENSP00000477587.1:p.Leu224Val
ENST00000622030.1:c.670C>G	ENSP00000477587.1:p.Leu224Val
NM_000348.3:c.670C>G	NP_000339.2:p.Leu224Val
XM_011533069.1:c.448C>G	XP_011531371.1:p.Leu150Val
XM_011533070.1:c.415C>G	XP_011531372.1:p.Leu139Val
XM_011533071.1:c.415C>G	XP_011531373.1:p.Leu139Val
XM_011533072.1:c.415C>G	XP_011531374.1:p.Leu139Val
XM_011533069.2:c.448C>G	XP_011531371.1:p.Leu150Val
XM_011533072.2:c.415C>G	XP_011531374.1:p.Leu139Val
NM_000348.4:c.670C>G MANE Select	NP_000339.2:p.Leu224Val