Canonical Allele Identifier: CA346598099

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31529436-G-A
• MyVariant Identifiers: chr2:g.31754506G>A (hg19) ; chr2:g.31529436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529436G>A , CM000664.2:g.31529436G>A	GRCh38
NC_000002.11:g.31754506G>A , CM000664.1:g.31754506G>A	GRCh37
NC_000002.10:g.31608010G>A	NCBI36
NG_008365.1:g.56536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.569C>T MANE Select	ENSP00000477587.1:p.Ser190Phe
ENST00000622030.1:c.569C>T	ENSP00000477587.1:p.Ser190Phe
NM_000348.3:c.569C>T	NP_000339.2:p.Ser190Phe
XM_011533069.1:c.347C>T	XP_011531371.1:p.Ser116Phe
XM_011533070.1:c.314C>T	XP_011531372.1:p.Ser105Phe
XM_011533071.1:c.314C>T	XP_011531373.1:p.Ser105Phe
XM_011533072.1:c.314C>T	XP_011531374.1:p.Ser105Phe
XM_011533069.2:c.347C>T	XP_011531371.1:p.Ser116Phe
XM_011533072.2:c.314C>T	XP_011531374.1:p.Ser105Phe
NM_000348.4:c.569C>T MANE Select	NP_000339.2:p.Ser190Phe