Canonical Allele Identifier: CA1242214472

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1666745920

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567103_31567106del , CM000664.2:g.31567103_31567106del	GRCh38
NC_000002.11:g.31792173_31792176del , CM000664.1:g.31792173_31792176del	GRCh37
NC_000002.10:g.31645677_31645680del	NCBI36
NG_008365.1:g.18871_18874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13519_281+13522del MANE Select	ENSP00000477587.1:n.281+13519_281+13522del
ENST00000622030.1:c.281+13519_281+13522del	ENSP00000477587.1:n.281+13519_281+13522del
NM_000348.3:c.281+13519_281+13522del	NP_000339.2:n.281+13519_281+13522del
XM_011533068.1:c.281+13519_281+13522del	XP_011531370.1:n.281+13519_281+13522del
XM_011533070.1:c.27-33335_27-33332del	XP_011531372.1:n.27-33335_27-33332del
XM_011533071.1:c.27-33335_27-33332del	XP_011531373.1:n.27-33335_27-33332del
XM_011533072.1:c.27-33335_27-33332del	XP_011531374.1:n.27-33335_27-33332del
XM_011533072.2:c.27-33335_27-33332del	XP_011531374.1:n.27-33335_27-33332del
NM_000348.4:c.281+13519_281+13522del MANE Select	NP_000339.2:n.281+13519_281+13522del