Canonical Allele Identifier: CA2658499286

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2903813
• ClinVar RCV Id: RCV003607036
• gnomAD v4: 2-31533735-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533738del , CM000664.2:g.31533738del	GRCh38
NC_000002.11:g.31758808del , CM000664.1:g.31758808del	GRCh37
NC_000002.10:g.31612312del	NCBI36
NG_008365.1:g.52236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.312del MANE Select	ENSP00000477587.1:p.Arg105GlyfsTer26
ENST00000622030.1:c.312del	ENSP00000477587.1:p.Arg105GlyfsTer26
NM_000348.3:c.312del	NP_000339.2:p.Arg105GlyfsTer26
XM_011533068.1:c.312del	XP_011531370.1:p.Arg105GlyfsTer26
XM_011533069.1:c.90del	XP_011531371.1:p.Arg31GlyfsTer26
XM_011533070.1:c.57del	XP_011531372.1:p.Arg20GlyfsTer26
XM_011533071.1:c.57del	XP_011531373.1:p.Arg20GlyfsTer26
XM_011533072.1:c.57del	XP_011531374.1:p.Arg20GlyfsTer26
XM_011533069.2:c.90del	XP_011531371.1:p.Arg31GlyfsTer26
XM_011533072.2:c.57del	XP_011531374.1:p.Arg20GlyfsTer26
NM_000348.4:c.312del MANE Select	NP_000339.2:p.Arg105GlyfsTer26