Canonical Allele Identifier: CA346598809

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31580645-G-A
• MyVariant Identifiers: chr2:g.31805715G>A (hg19) ; chr2:g.31580645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580645G>A , CM000664.2:g.31580645G>A	GRCh38
NC_000002.11:g.31805715G>A , CM000664.1:g.31805715G>A	GRCh37
NC_000002.10:g.31659219G>A	NCBI36
NG_008365.1:g.5327C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.256C>T MANE Select	ENSP00000477587.1:p.Leu86Phe
ENST00000622030.1:c.256C>T	ENSP00000477587.1:p.Leu86Phe
NM_000348.3:c.256C>T	NP_000339.2:p.Leu86Phe
XM_011533068.1:c.256C>T	XP_011531370.1:p.Leu86Phe
XM_011533070.1:c.27-46879C>T	XP_011531372.1:n.27-46879C>T
XM_011533071.1:c.27-46879C>T	XP_011531373.1:n.27-46879C>T
XM_011533072.1:c.27-46879C>T	XP_011531374.1:n.27-46879C>T
XM_011533072.2:c.27-46879C>T	XP_011531374.1:n.27-46879C>T
NM_000348.4:c.256C>T MANE Select	NP_000339.2:p.Leu86Phe