Canonical Allele Identifier: CA346598150

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 375328
• ClinVar RCV Id: RCV000581602
• dbSNP Id: rs1057519061
• gnomAD v2: 2-31754536-A-C
• gnomAD v4: 2-31529466-A-C
• MyVariant Identifiers: chr2:g.31754536A>C (hg19) ; chr2:g.31529466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529466A>C , CM000664.2:g.31529466A>C	GRCh38
NC_000002.11:g.31754536A>C , CM000664.1:g.31754536A>C	GRCh37
NC_000002.10:g.31608040A>C	NCBI36
NG_008365.1:g.56506T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.548-9T>G MANE Select	ENSP00000477587.1:n.548-9T>G
ENST00000622030.1:c.548-9T>G	ENSP00000477587.1:n.548-9T>G
NM_000348.3:c.548-9T>G	NP_000339.2:n.548-9T>G
XM_011533069.1:c.326-9T>G	XP_011531371.1:n.326-9T>G
XM_011533070.1:c.293-9T>G	XP_011531372.1:n.293-9T>G
XM_011533071.1:c.293-9T>G	XP_011531373.1:n.293-9T>G
XM_011533072.1:c.293-9T>G	XP_011531374.1:n.293-9T>G
XM_011533069.2:c.326-9T>G	XP_011531371.1:n.326-9T>G
XM_011533072.2:c.293-9T>G	XP_011531374.1:n.293-9T>G
NM_000348.4:c.548-9T>G MANE Select	NP_000339.2:n.548-9T>G