Canonical Allele Identifier: CA346598606

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533698-G-T
• MyVariant Identifiers: chr2:g.31758768G>T (hg19) ; chr2:g.31533698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533698G>T , CM000664.2:g.31533698G>T	GRCh38
NC_000002.11:g.31758768G>T , CM000664.1:g.31758768G>T	GRCh37
NC_000002.10:g.31612272G>T	NCBI36
NG_008365.1:g.52274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.350C>A MANE Select	ENSP00000477587.1:p.Ala117Asp
ENST00000622030.1:c.350C>A	ENSP00000477587.1:p.Ala117Asp
NM_000348.3:c.350C>A	NP_000339.2:p.Ala117Asp
XM_011533068.1:c.350C>A	XP_011531370.1:p.Ala117Asp
XM_011533069.1:c.128C>A	XP_011531371.1:p.Ala43Asp
XM_011533070.1:c.95C>A	XP_011531372.1:p.Ala32Asp
XM_011533071.1:c.95C>A	XP_011531373.1:p.Ala32Asp
XM_011533072.1:c.95C>A	XP_011531374.1:p.Ala32Asp
XM_011533069.2:c.128C>A	XP_011531371.1:p.Ala43Asp
XM_011533072.2:c.95C>A	XP_011531374.1:p.Ala32Asp
NM_000348.4:c.350C>A MANE Select	NP_000339.2:p.Ala117Asp