Canonical Allele Identifier: CA2658498697

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531424-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531425del , CM000664.2:g.31531425del	GRCh38
NC_000002.11:g.31756495del , CM000664.1:g.31756495del	GRCh37
NC_000002.10:g.31609999del	NCBI36
NG_008365.1:g.54547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.493del MANE Select	ENSP00000477587.1:p.Tyr165IlefsTer?
ENST00000622030.1:c.493del	ENSP00000477587.1:p.Tyr165IlefsTer?
NM_000348.3:c.493del	NP_000339.2:p.Tyr165IlefsTer?
XM_011533069.1:c.271del	XP_011531371.1:p.Tyr91IlefsTer?
XM_011533070.1:c.238del	XP_011531372.1:p.Tyr80IlefsTer?
XM_011533071.1:c.238del	XP_011531373.1:p.Tyr80IlefsTer?
XM_011533072.1:c.238del	XP_011531374.1:p.Tyr80IlefsTer?
XM_011533069.2:c.271del	XP_011531371.1:p.Tyr91IlefsTer?
XM_011533072.2:c.238del	XP_011531374.1:p.Tyr80IlefsTer?
NM_000348.4:c.493del MANE Select	NP_000339.2:p.Tyr165IlefsTer?