Canonical Allele Identifier: CA45136785

Gene: SRD5A2

Linked Data

• dbSNP Id: rs148028901
• gnomAD v3: 2-31533734-C-T
• gnomAD v4: 2-31533734-C-T
• MyVariant Identifiers: chr2:g.31758804C>T (hg19) ; chr2:g.31533734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533734C>T , CM000664.2:g.31533734C>T	GRCh38
NC_000002.11:g.31758804C>T , CM000664.1:g.31758804C>T	GRCh37
NC_000002.10:g.31612308C>T	NCBI36
NG_008365.1:g.52238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.314G>A MANE Select	ENSP00000477587.1:p.Arg105Lys
ENST00000622030.1:c.314G>A	ENSP00000477587.1:p.Arg105Lys
NM_000348.3:c.314G>A	NP_000339.2:p.Arg105Lys
XM_011533068.1:c.314G>A	XP_011531370.1:p.Arg105Lys
XM_011533069.1:c.92G>A	XP_011531371.1:p.Arg31Lys
XM_011533070.1:c.59G>A	XP_011531372.1:p.Arg20Lys
XM_011533071.1:c.59G>A	XP_011531373.1:p.Arg20Lys
XM_011533072.1:c.59G>A	XP_011531374.1:p.Arg20Lys
XM_011533069.2:c.92G>A	XP_011531371.1:p.Arg31Lys
XM_011533072.2:c.59G>A	XP_011531374.1:p.Arg20Lys
NM_000348.4:c.314G>A MANE Select	NP_000339.2:p.Arg105Lys