Canonical Allele Identifier: CA346597719

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1177107690
• gnomAD v2: 2-31751283-T-G
• gnomAD v4: 2-31526213-T-G
• MyVariant Identifiers: chr2:g.31751283T>G (hg19) ; chr2:g.31526213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526213T>G , CM000664.2:g.31526213T>G	GRCh38
NC_000002.11:g.31751283T>G , CM000664.1:g.31751283T>G	GRCh37
NC_000002.10:g.31604787T>G	NCBI36
NG_008365.1:g.59759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.748A>C MANE Select	ENSP00000477587.1:p.Ile250Leu
ENST00000622030.1:c.748A>C	ENSP00000477587.1:p.Ile250Leu
NM_000348.3:c.748A>C	NP_000339.2:p.Ile250Leu
XM_011533069.1:c.526A>C	XP_011531371.1:p.Ile176Leu
XM_011533070.1:c.493A>C	XP_011531372.1:p.Ile165Leu
XM_011533071.1:c.493A>C	XP_011531373.1:p.Ile165Leu
XM_011533072.1:c.493A>C	XP_011531374.1:p.Ile165Leu
XM_011533069.2:c.526A>C	XP_011531371.1:p.Ile176Leu
XM_011533072.2:c.493A>C	XP_011531374.1:p.Ile165Leu
NM_000348.4:c.748A>C MANE Select	NP_000339.2:p.Ile250Leu