Canonical Allele Identifier: CA1599915

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 1418189
• ClinVar RCV Id: RCV001951989
• dbSNP Id: rs767928056
• ExAC: 2:31756451 C / A
• gnomAD v2: 2-31756451-C-A
• gnomAD v3: 2-31531381-C-A
• gnomAD v4: 2-31531381-C-A
• MyVariant Identifiers: chr2:g.31756451C>A (hg19) ; chr2:g.31531381C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.537G>T MANE Select	ENSP00000477587.1:p.Arg179Ser
ENST00000622030.1:c.537G>T	ENSP00000477587.1:p.Arg179Ser
NM_000348.3:c.537G>T	NP_000339.2:p.Arg179Ser
XM_011533069.1:c.315G>T	XP_011531371.1:p.Arg105Ser
XM_011533070.1:c.282G>T	XP_011531372.1:p.Arg94Ser
XM_011533071.1:c.282G>T	XP_011531373.1:p.Arg94Ser
XM_011533072.1:c.282G>T	XP_011531374.1:p.Arg94Ser
XM_011533069.2:c.315G>T	XP_011531371.1:p.Arg105Ser
XM_011533072.2:c.282G>T	XP_011531374.1:p.Arg94Ser
NM_000348.4:c.537G>T MANE Select	NP_000339.2:p.Arg179Ser