Canonical Allele Identifier: CA346597785

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31751314A>T (hg19) ; chr2:g.31526244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526244A>T , CM000664.2:g.31526244A>T	GRCh38
NC_000002.11:g.31751314A>T , CM000664.1:g.31751314A>T	GRCh37
NC_000002.10:g.31604818A>T	NCBI36
NG_008365.1:g.59728T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.717T>A MANE Select	ENSP00000477587.1:p.Phe239Leu
ENST00000622030.1:c.717T>A	ENSP00000477587.1:p.Phe239Leu
NM_000348.3:c.717T>A	NP_000339.2:p.Phe239Leu
XM_011533069.1:c.495T>A	XP_011531371.1:p.Phe165Leu
XM_011533070.1:c.462T>A	XP_011531372.1:p.Phe154Leu
XM_011533071.1:c.462T>A	XP_011531373.1:p.Phe154Leu
XM_011533072.1:c.462T>A	XP_011531374.1:p.Phe154Leu
XM_011533069.2:c.495T>A	XP_011531371.1:p.Phe165Leu
XM_011533072.2:c.462T>A	XP_011531374.1:p.Phe154Leu
NM_000348.4:c.717T>A MANE Select	NP_000339.2:p.Phe239Leu