Canonical Allele Identifier: CA346598079

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31754495A>C (hg19) ; chr2:g.31529425A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529425A>C , CM000664.2:g.31529425A>C	GRCh38
NC_000002.11:g.31754495A>C , CM000664.1:g.31754495A>C	GRCh37
NC_000002.10:g.31607999A>C	NCBI36
NG_008365.1:g.56547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.580T>G MANE Select	ENSP00000477587.1:p.Phe194Val
ENST00000622030.1:c.580T>G	ENSP00000477587.1:p.Phe194Val
NM_000348.3:c.580T>G	NP_000339.2:p.Phe194Val
XM_011533069.1:c.358T>G	XP_011531371.1:p.Phe120Val
XM_011533070.1:c.325T>G	XP_011531372.1:p.Phe109Val
XM_011533071.1:c.325T>G	XP_011531373.1:p.Phe109Val
XM_011533072.1:c.325T>G	XP_011531374.1:p.Phe109Val
XM_011533069.2:c.358T>G	XP_011531371.1:p.Phe120Val
XM_011533072.2:c.325T>G	XP_011531374.1:p.Phe109Val
NM_000348.4:c.580T>G MANE Select	NP_000339.2:p.Phe194Val