Canonical Allele Identifier: CA346597828

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1378704759
• gnomAD v2: 2-31751331-A-G
• MyVariant Identifiers: chr2:g.31751331A>G (hg19) ; chr2:g.31526261A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526261A>G , CM000664.2:g.31526261A>G	GRCh38
NC_000002.11:g.31751331A>G , CM000664.1:g.31751331A>G	GRCh37
NC_000002.10:g.31604835A>G	NCBI36
NG_008365.1:g.59711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.700T>C MANE Select	ENSP00000477587.1:p.Phe234Leu
ENST00000622030.1:c.700T>C	ENSP00000477587.1:p.Phe234Leu
NM_000348.3:c.700T>C	NP_000339.2:p.Phe234Leu
XM_011533069.1:c.478T>C	XP_011531371.1:p.Phe160Leu
XM_011533070.1:c.445T>C	XP_011531372.1:p.Phe149Leu
XM_011533071.1:c.445T>C	XP_011531373.1:p.Phe149Leu
XM_011533072.1:c.445T>C	XP_011531374.1:p.Phe149Leu
XM_011533069.2:c.478T>C	XP_011531371.1:p.Phe160Leu
XM_011533072.2:c.445T>C	XP_011531374.1:p.Phe149Leu
NM_000348.4:c.700T>C MANE Select	NP_000339.2:p.Phe234Leu