Canonical Allele Identifier: CA2658499287

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533754-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533755del , CM000664.2:g.31533755del	GRCh38
NC_000002.11:g.31758825del , CM000664.1:g.31758825del	GRCh37
NC_000002.10:g.31612329del	NCBI36
NG_008365.1:g.52217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.293del MANE Select	ENSP00000477587.1:p.Tyr98SerfsTer?
ENST00000622030.1:c.293del	ENSP00000477587.1:p.Tyr98SerfsTer?
NM_000348.3:c.293del	NP_000339.2:p.Tyr98SerfsTer?
XM_011533068.1:c.293del	XP_011531370.1:p.Tyr98SerfsTer?
XM_011533069.1:c.71del	XP_011531371.1:p.Tyr24SerfsTer?
XM_011533070.1:c.38del	XP_011531372.1:p.Tyr13SerfsTer?
XM_011533071.1:c.38del	XP_011531373.1:p.Tyr13SerfsTer?
XM_011533072.1:c.38del	XP_011531374.1:p.Tyr13SerfsTer?
XM_011533069.2:c.71del	XP_011531371.1:p.Tyr24SerfsTer?
XM_011533072.2:c.38del	XP_011531374.1:p.Tyr13SerfsTer?
NM_000348.4:c.293del MANE Select	NP_000339.2:p.Tyr98SerfsTer?