Canonical Allele Identifier: CA1599866

Gene: SRD5A2

Linked Data

• dbSNP Id: rs755616682
• ExAC: 2:31754378 T / C
• gnomAD v2: 2-31754378-T-C
• gnomAD v3: 2-31529308-T-C
• gnomAD v4: 2-31529308-T-C
• MyVariant Identifiers: chr2:g.31754378T>C (hg19) ; chr2:g.31529308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529308T>C , CM000664.2:g.31529308T>C	GRCh38
NC_000002.11:g.31754378T>C , CM000664.1:g.31754378T>C	GRCh37
NC_000002.10:g.31607882T>C	NCBI36
NG_008365.1:g.56664A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.697A>G MANE Select	ENSP00000477587.1:p.Arg233Gly
ENST00000622030.1:c.697A>G	ENSP00000477587.1:p.Arg233Gly
NM_000348.3:c.697A>G	NP_000339.2:p.Arg233Gly
XM_011533069.1:c.475A>G	XP_011531371.1:p.Arg159Gly
XM_011533070.1:c.442A>G	XP_011531372.1:p.Arg148Gly
XM_011533071.1:c.442A>G	XP_011531373.1:p.Arg148Gly
XM_011533072.1:c.442A>G	XP_011531374.1:p.Arg148Gly
XM_011533069.2:c.475A>G	XP_011531371.1:p.Arg159Gly
XM_011533072.2:c.442A>G	XP_011531374.1:p.Arg148Gly
NM_000348.4:c.697A>G MANE Select	NP_000339.2:p.Arg233Gly