Canonical Allele Identifier: CA45136780

Gene: SRD5A2

Linked Data

• dbSNP Id: rs753942411
• gnomAD v2: 2-31758764-G-C
• gnomAD v3: 2-31533694-G-C
• gnomAD v4: 2-31533694-G-C
• MyVariant Identifiers: chr2:g.31758764G>C (hg19) ; chr2:g.31533694G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533694G>C , CM000664.2:g.31533694G>C	GRCh38
NC_000002.11:g.31758764G>C , CM000664.1:g.31758764G>C	GRCh37
NC_000002.10:g.31612268G>C	NCBI36
NG_008365.1:g.52278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.354C>G MANE Select	ENSP00000477587.1:p.Phe118Leu
ENST00000622030.1:c.354C>G	ENSP00000477587.1:p.Phe118Leu
NM_000348.3:c.354C>G	NP_000339.2:p.Phe118Leu
XM_011533068.1:c.354C>G	XP_011531370.1:p.Phe118Leu
XM_011533069.1:c.132C>G	XP_011531371.1:p.Phe44Leu
XM_011533070.1:c.99C>G	XP_011531372.1:p.Phe33Leu
XM_011533071.1:c.99C>G	XP_011531373.1:p.Phe33Leu
XM_011533072.1:c.99C>G	XP_011531374.1:p.Phe33Leu
XM_011533069.2:c.132C>G	XP_011531371.1:p.Phe44Leu
XM_011533072.2:c.99C>G	XP_011531374.1:p.Phe33Leu
NM_000348.4:c.354C>G MANE Select	NP_000339.2:p.Phe118Leu