Canonical Allele Identifier: CA425567489

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31529444-C-A
• MyVariant Identifiers: chr2:g.31754514C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529444C>A , CM000664.2:g.31529444C>A	GRCh38
NC_000002.11:g.31754514C>A , CM000664.1:g.31754514C>A	GRCh37
NC_000002.10:g.31608018C>A	NCBI36
NG_008365.1:g.56528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.561G>T MANE Select	ENSP00000477587.1:p.Thr187=
ENST00000622030.1:c.561G>T	ENSP00000477587.1:p.Thr187=
NM_000348.3:c.561G>T	NP_000339.2:p.Thr187=
XM_011533069.1:c.339G>T	XP_011531371.1:p.Thr113=
XM_011533070.1:c.306G>T	XP_011531372.1:p.Thr102=
XM_011533071.1:c.306G>T	XP_011531373.1:p.Thr102=
XM_011533072.1:c.306G>T	XP_011531374.1:p.Thr102=
XM_011533069.2:c.339G>T	XP_011531371.1:p.Thr113=
XM_011533072.2:c.306G>T	XP_011531374.1:p.Thr102=
NM_000348.4:c.561G>T MANE Select	NP_000339.2:p.Thr187=