Canonical Allele Identifier: CA2697547973

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2756480
• ClinVar RCV Id: RCV003500145

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529441del , CM000664.2:g.31529441del	GRCh38
NC_000002.11:g.31754511del , CM000664.1:g.31754511del	GRCh37
NC_000002.10:g.31608015del	NCBI36
NG_008365.1:g.56531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.564del MANE Select	ENSP00000477587.1:p.Tyr188Ter
ENST00000622030.1:c.564del	ENSP00000477587.1:p.Tyr188Ter
NM_000348.3:c.564del	NP_000339.2:p.Tyr188Ter
XM_011533069.1:c.342del	XP_011531371.1:p.Tyr114Ter
XM_011533070.1:c.309del	XP_011531372.1:p.Tyr103Ter
XM_011533071.1:c.309del	XP_011531373.1:p.Tyr103Ter
XM_011533072.1:c.309del	XP_011531374.1:p.Tyr103Ter
XM_011533069.2:c.342del	XP_011531371.1:p.Tyr114Ter
XM_011533072.2:c.309del	XP_011531374.1:p.Tyr103Ter
NM_000348.4:c.564del MANE Select	NP_000339.2:p.Tyr188Ter