Canonical Allele Identifier: CA531711848

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1242651830
• gnomAD v2: 2-31754566-G-T
• gnomAD v4: 2-31529496-G-T
• MyVariant Identifiers: chr2:g.31754566G>T (hg19) ; chr2:g.31529496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529496G>T , CM000664.2:g.31529496G>T	GRCh38
NC_000002.11:g.31754566G>T , CM000664.1:g.31754566G>T	GRCh37
NC_000002.10:g.31608070G>T	NCBI36
NG_008365.1:g.56476C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.548-39C>A MANE Select	ENSP00000477587.1:n.548-39C>A
ENST00000622030.1:c.548-39C>A	ENSP00000477587.1:n.548-39C>A
NM_000348.3:c.548-39C>A	NP_000339.2:n.548-39C>A
XM_011533069.1:c.326-39C>A	XP_011531371.1:n.326-39C>A
XM_011533070.1:c.293-39C>A	XP_011531372.1:n.293-39C>A
XM_011533071.1:c.293-39C>A	XP_011531373.1:n.293-39C>A
XM_011533072.1:c.293-39C>A	XP_011531374.1:n.293-39C>A
XM_011533069.2:c.326-39C>A	XP_011531371.1:n.326-39C>A
XM_011533072.2:c.293-39C>A	XP_011531374.1:n.293-39C>A
NM_000348.4:c.548-39C>A MANE Select	NP_000339.2:n.548-39C>A