Canonical Allele Identifier: CA346598609

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533699-C-T
• COSMIC: COSN24299357
• MyVariant Identifiers: chr2:g.31758769C>T (hg19) ; chr2:g.31533699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533699C>T , CM000664.2:g.31533699C>T	GRCh38
NC_000002.11:g.31758769C>T , CM000664.1:g.31758769C>T	GRCh37
NC_000002.10:g.31612273C>T	NCBI36
NG_008365.1:g.52273G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.349G>A MANE Select	ENSP00000477587.1:p.Ala117Thr
ENST00000622030.1:c.349G>A	ENSP00000477587.1:p.Ala117Thr
NM_000348.3:c.349G>A	NP_000339.2:p.Ala117Thr
XM_011533068.1:c.349G>A	XP_011531370.1:p.Ala117Thr
XM_011533069.1:c.127G>A	XP_011531371.1:p.Ala43Thr
XM_011533070.1:c.94G>A	XP_011531372.1:p.Ala32Thr
XM_011533071.1:c.94G>A	XP_011531373.1:p.Ala32Thr
XM_011533072.1:c.94G>A	XP_011531374.1:p.Ala32Thr
XM_011533069.2:c.127G>A	XP_011531371.1:p.Ala43Thr
XM_011533072.2:c.94G>A	XP_011531374.1:p.Ala32Thr
NM_000348.4:c.349G>A MANE Select	NP_000339.2:p.Ala117Thr