Canonical Allele Identifier: CA45136319

Gene: SRD5A2

Linked Data

• dbSNP Id: rs951336891
• gnomAD v4: 2-31529430-G-A
• COSMIC: COSN1237693 ; COSN5791455
• MyVariant Identifiers: chr2:g.31754500G>A (hg19) ; chr2:g.31529430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529430G>A , CM000664.2:g.31529430G>A	GRCh38
NC_000002.11:g.31754500G>A , CM000664.1:g.31754500G>A	GRCh37
NC_000002.10:g.31608004G>A	NCBI36
NG_008365.1:g.56542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.575C>T MANE Select	ENSP00000477587.1:p.Ala192Val
ENST00000622030.1:c.575C>T	ENSP00000477587.1:p.Ala192Val
NM_000348.3:c.575C>T	NP_000339.2:p.Ala192Val
XM_011533069.1:c.353C>T	XP_011531371.1:p.Ala118Val
XM_011533070.1:c.320C>T	XP_011531372.1:p.Ala107Val
XM_011533071.1:c.320C>T	XP_011531373.1:p.Ala107Val
XM_011533072.1:c.320C>T	XP_011531374.1:p.Ala107Val
XM_011533069.2:c.353C>T	XP_011531371.1:p.Ala118Val
XM_011533072.2:c.320C>T	XP_011531374.1:p.Ala107Val
NM_000348.4:c.575C>T MANE Select	NP_000339.2:p.Ala192Val