Canonical Allele Identifier: CA45135981

Gene: SRD5A2

Linked Data

• dbSNP Id: rs747740535
• gnomAD v4: 2-31526316-T-C
• MyVariant Identifiers: chr2:g.31751386T>C (hg19) ; chr2:g.31526316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526316T>C , CM000664.2:g.31526316T>C	GRCh38
NC_000002.11:g.31751386T>C , CM000664.1:g.31751386T>C	GRCh37
NC_000002.10:g.31604890T>C	NCBI36
NG_008365.1:g.59656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.699-54A>G MANE Select	ENSP00000477587.1:n.699-54A>G
ENST00000622030.1:c.699-54A>G	ENSP00000477587.1:n.699-54A>G
NM_000348.3:c.699-54A>G	NP_000339.2:n.699-54A>G
XM_011533069.1:c.477-54A>G	XP_011531371.1:n.477-54A>G
XM_011533070.1:c.444-54A>G	XP_011531372.1:n.444-54A>G
XM_011533071.1:c.444-54A>G	XP_011531373.1:n.444-54A>G
XM_011533072.1:c.444-54A>G	XP_011531374.1:n.444-54A>G
XM_011533069.2:c.477-54A>G	XP_011531371.1:n.477-54A>G
XM_011533072.2:c.444-54A>G	XP_011531374.1:n.444-54A>G
NM_000348.4:c.699-54A>G MANE Select	NP_000339.2:n.699-54A>G