Canonical Allele Identifier: CA2576929420

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2862678
• ClinVar RCV Id: RCV003608399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533617dup , CM000664.2:g.31533617dup	GRCh38
NC_000002.11:g.31758687dup , CM000664.1:g.31758687dup	GRCh37
NC_000002.10:g.31612191dup	NCBI36
NG_008365.1:g.52355dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.431dup MANE Select	ENSP00000477587.1:p.Arg145ThrfsTer3
ENST00000622030.1:c.431dup	ENSP00000477587.1:p.Arg145ThrfsTer3
NM_000348.3:c.431dup	NP_000339.2:p.Arg145ThrfsTer3
XM_011533068.1:c.431dup	XP_011531370.1:p.Arg145ThrfsTer3
XM_011533069.1:c.209dup	XP_011531371.1:p.Arg71ThrfsTer3
XM_011533070.1:c.176dup	XP_011531372.1:p.Arg60ThrfsTer3
XM_011533071.1:c.176dup	XP_011531373.1:p.Arg60ThrfsTer3
XM_011533072.1:c.176dup	XP_011531374.1:p.Arg60ThrfsTer3
XM_011533069.2:c.209dup	XP_011531371.1:p.Arg71ThrfsTer3
XM_011533072.2:c.176dup	XP_011531374.1:p.Arg60ThrfsTer3
NM_000348.4:c.431dup MANE Select	NP_000339.2:p.Arg145ThrfsTer3