Canonical Allele Identifier: CA116158

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 3351
• ClinVar RCV Id: RCV000003515 ; RCV000083663 ; RCV000288398 ; RCV003313913 ; RCV003944795
• dbSNP Id: rs9332964
• ExAC: 2:31754395 C / T
• gnomAD v2: 2-31754395-C-T
• gnomAD v3: 2-31529325-C-T
• gnomAD v4: 2-31529325-C-T
• MyVariant Identifiers: chr2:g.31754395C>T (hg19) ; chr2:g.31529325C>T (hg38)
• PubMed: PMID:10898110 ; PMID:12843198

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529325C>T , CM000664.2:g.31529325C>T	GRCh38
NC_000002.11:g.31754395C>T , CM000664.1:g.31754395C>T	GRCh37
NC_000002.10:g.31607899C>T	NCBI36
NG_008365.1:g.56647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.680G>A MANE Select	ENSP00000477587.1:p.Arg227Gln
ENST00000622030.1:c.680G>A	ENSP00000477587.1:p.Arg227Gln
NM_000348.3:c.680G>A	NP_000339.2:p.Arg227Gln
XM_011533069.1:c.458G>A	XP_011531371.1:p.Arg153Gln
XM_011533070.1:c.425G>A	XP_011531372.1:p.Arg142Gln
XM_011533071.1:c.425G>A	XP_011531373.1:p.Arg142Gln
XM_011533072.1:c.425G>A	XP_011531374.1:p.Arg142Gln
XM_011533069.2:c.458G>A	XP_011531371.1:p.Arg153Gln
XM_011533072.2:c.425G>A	XP_011531374.1:p.Arg142Gln
NM_000348.4:c.680G>A MANE Select	NP_000339.2:p.Arg227Gln