Canonical Allele Identifier: CA425567508

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 492903
• ClinVar RCV Id: RCV000582721
• dbSNP Id: rs767928056
• gnomAD v4: 2-31531381-C-T
• MyVariant Identifiers: chr2:g.31756451C>T (hg19) ; chr2:g.31531381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531381C>T , CM000664.2:g.31531381C>T	GRCh38
NC_000002.11:g.31756451C>T , CM000664.1:g.31756451C>T	GRCh37
NC_000002.10:g.31609955C>T	NCBI36
NG_008365.1:g.54591G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.537G>A MANE Select	ENSP00000477587.1:p.Arg179=
ENST00000622030.1:c.537G>A	ENSP00000477587.1:p.Arg179=
NM_000348.3:c.537G>A	NP_000339.2:p.Arg179=
XM_011533069.1:c.315G>A	XP_011531371.1:p.Arg105=
XM_011533070.1:c.282G>A	XP_011531372.1:p.Arg94=
XM_011533071.1:c.282G>A	XP_011531373.1:p.Arg94=
XM_011533072.1:c.282G>A	XP_011531374.1:p.Arg94=
XM_011533069.2:c.315G>A	XP_011531371.1:p.Arg105=
XM_011533072.2:c.282G>A	XP_011531374.1:p.Arg94=
NM_000348.4:c.537G>A MANE Select	NP_000339.2:p.Arg179=