Canonical Allele Identifier: CA658683179

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 492904
• ClinVar RCV Id: RCV000583325
• dbSNP Id: rs753272225
• MyVariant Identifiers: chr2:g.31754532G>C (hg19) ; chr2:g.31529462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529462G>C , CM000664.2:g.31529462G>C	GRCh38
NC_000002.11:g.31754532G>C , CM000664.1:g.31754532G>C	GRCh37
NC_000002.10:g.31608036G>C	NCBI36
NG_008365.1:g.56510C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.548-5C>G MANE Select	ENSP00000477587.1:n.548-5C>G
ENST00000622030.1:c.548-5C>G	ENSP00000477587.1:n.548-5C>G
NM_000348.3:c.548-5C>G	NP_000339.2:n.548-5C>G
XM_011533069.1:c.326-5C>G	XP_011531371.1:n.326-5C>G
XM_011533070.1:c.293-5C>G	XP_011531372.1:n.293-5C>G
XM_011533071.1:c.293-5C>G	XP_011531373.1:n.293-5C>G
XM_011533072.1:c.293-5C>G	XP_011531374.1:n.293-5C>G
XM_011533069.2:c.326-5C>G	XP_011531371.1:n.326-5C>G
XM_011533072.2:c.293-5C>G	XP_011531374.1:n.293-5C>G
NM_000348.4:c.548-5C>G MANE Select	NP_000339.2:n.548-5C>G