Canonical Allele Identifier: CA1242215022

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1666776415

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31568242_31568244del , CM000664.2:g.31568242_31568244del	GRCh38
NC_000002.11:g.31793312_31793314del , CM000664.1:g.31793312_31793314del	GRCh37
NC_000002.10:g.31646816_31646818del	NCBI36
NG_008365.1:g.17731_17733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+12379_281+12381del MANE Select	ENSP00000477587.1:n.281+12379_281+12381del
ENST00000622030.1:c.281+12379_281+12381del	ENSP00000477587.1:n.281+12379_281+12381del
NM_000348.3:c.281+12379_281+12381del	NP_000339.2:n.281+12379_281+12381del
XM_011533068.1:c.281+12379_281+12381del	XP_011531370.1:n.281+12379_281+12381del
XM_011533070.1:c.27-34475_27-34473del	XP_011531372.1:n.27-34475_27-34473del
XM_011533071.1:c.27-34475_27-34473del	XP_011531373.1:n.27-34475_27-34473del
XM_011533072.1:c.27-34475_27-34473del	XP_011531374.1:n.27-34475_27-34473del
XM_011533072.2:c.27-34475_27-34473del	XP_011531374.1:n.27-34475_27-34473del
NM_000348.4:c.281+12379_281+12381del MANE Select	NP_000339.2:n.281+12379_281+12381del