Canonical Allele Identifier: CA1599882

Gene: SRD5A2

Linked Data

• dbSNP Id: rs780523225
• ExAC: 2:31754479 A / T
• gnomAD v2: 2-31754479-A-T
• gnomAD v3: 2-31529409-A-T
• gnomAD v4: 2-31529409-A-T
• MyVariant Identifiers: chr2:g.31754479A>T (hg19) ; chr2:g.31529409A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529409A>T , CM000664.2:g.31529409A>T	GRCh38
NC_000002.11:g.31754479A>T , CM000664.1:g.31754479A>T	GRCh37
NC_000002.10:g.31607983A>T	NCBI36
NG_008365.1:g.56563T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.596T>A MANE Select	ENSP00000477587.1:p.Ile199Asn
ENST00000622030.1:c.596T>A	ENSP00000477587.1:p.Ile199Asn
NM_000348.3:c.596T>A	NP_000339.2:p.Ile199Asn
XM_011533069.1:c.374T>A	XP_011531371.1:p.Ile125Asn
XM_011533070.1:c.341T>A	XP_011531372.1:p.Ile114Asn
XM_011533071.1:c.341T>A	XP_011531373.1:p.Ile114Asn
XM_011533072.1:c.341T>A	XP_011531374.1:p.Ile114Asn
XM_011533069.2:c.374T>A	XP_011531371.1:p.Ile125Asn
XM_011533072.2:c.341T>A	XP_011531374.1:p.Ile114Asn
NM_000348.4:c.596T>A MANE Select	NP_000339.2:p.Ile199Asn