Canonical Allele Identifier: CA346598735

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533766-C-A
• MyVariant Identifiers: chr2:g.31758836C>A (hg19) ; chr2:g.31533766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533766C>A , CM000664.2:g.31533766C>A	GRCh38
NC_000002.11:g.31758836C>A , CM000664.1:g.31758836C>A	GRCh37
NC_000002.10:g.31612340C>A	NCBI36
NG_008365.1:g.52206G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.282G>T MANE Select	ENSP00000477587.1:p.Arg94Ser
ENST00000622030.1:c.282G>T	ENSP00000477587.1:p.Arg94Ser
NM_000348.3:c.282G>T	NP_000339.2:p.Arg94Ser
XM_011533068.1:c.282G>T	XP_011531370.1:p.Arg94Ser
XM_011533069.1:c.60G>T	XP_011531371.1:p.Lys20Asn
XM_011533070.1:c.27G>T	XP_011531372.1:p.Arg9Ser
XM_011533071.1:c.27G>T	XP_011531373.1:p.Arg9Ser
XM_011533072.1:c.27G>T	XP_011531374.1:p.Arg9Ser
XM_011533069.2:c.60G>T	XP_011531371.1:p.Lys20Asn
XM_011533072.2:c.27G>T	XP_011531374.1:p.Arg9Ser
NM_000348.4:c.282G>T MANE Select	NP_000339.2:p.Arg94Ser