Canonical Allele Identifier: CA1599846

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 459645
• ClinVar RCV Id: RCV000546486
• dbSNP Id: rs9332967
• ExAC: 2:31751294 C / T
• gnomAD v2: 2-31751294-C-T
• gnomAD v3: 2-31526224-C-T
• gnomAD v4: 2-31526224-C-T
• COSMIC: COSN215604
• MyVariant Identifiers: chr2:g.31751294C>T (hg19) ; chr2:g.31526224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526224C>T , CM000664.2:g.31526224C>T	GRCh38
NC_000002.11:g.31751294C>T , CM000664.1:g.31751294C>T	GRCh37
NC_000002.10:g.31604798C>T	NCBI36
NG_008365.1:g.59748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.737G>A MANE Select	ENSP00000477587.1:p.Arg246Gln
ENST00000622030.1:c.737G>A	ENSP00000477587.1:p.Arg246Gln
NM_000348.3:c.737G>A	NP_000339.2:p.Arg246Gln
XM_011533069.1:c.515G>A	XP_011531371.1:p.Arg172Gln
XM_011533070.1:c.482G>A	XP_011531372.1:p.Arg161Gln
XM_011533071.1:c.482G>A	XP_011531373.1:p.Arg161Gln
XM_011533072.1:c.482G>A	XP_011531374.1:p.Arg161Gln
XM_011533069.2:c.515G>A	XP_011531371.1:p.Arg172Gln
XM_011533072.2:c.482G>A	XP_011531374.1:p.Arg161Gln
NM_000348.4:c.737G>A MANE Select	NP_000339.2:p.Arg246Gln