Canonical Allele Identifier: CA425567567

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531411-C-T
• MyVariant Identifiers: chr2:g.31756481C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531411C>T , CM000664.2:g.31531411C>T	GRCh38
NC_000002.11:g.31756481C>T , CM000664.1:g.31756481C>T	GRCh37
NC_000002.10:g.31609985C>T	NCBI36
NG_008365.1:g.54561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.507G>A MANE Select	ENSP00000477587.1:p.Gln169=
ENST00000622030.1:c.507G>A	ENSP00000477587.1:p.Gln169=
NM_000348.3:c.507G>A	NP_000339.2:p.Gln169=
XM_011533069.1:c.285G>A	XP_011531371.1:p.Gln95=
XM_011533070.1:c.252G>A	XP_011531372.1:p.Gln84=
XM_011533071.1:c.252G>A	XP_011531373.1:p.Gln84=
XM_011533072.1:c.252G>A	XP_011531374.1:p.Gln84=
XM_011533069.2:c.285G>A	XP_011531371.1:p.Gln95=
XM_011533072.2:c.252G>A	XP_011531374.1:p.Gln84=
NM_000348.4:c.507G>A MANE Select	NP_000339.2:p.Gln169=