Canonical Allele Identifier: CA2658499288
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533759_31533760del , CM000664.2:g.31533759_31533760del GRCh38
NC_000002.11:g.31758829_31758830del , CM000664.1:g.31758829_31758830del GRCh37
NC_000002.10:g.31612333_31612334del NCBI36
NG_008365.1:g.52215_52216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.291_292del MANE Select ENSP00000477587.1:p.Tyr98LeufsTer?
ENST00000622030.1:c.291_292del ENSP00000477587.1:p.Tyr98LeufsTer?
NM_000348.3:c.291_292del NP_000339.2:p.Tyr98LeufsTer?
XM_011533068.1:c.291_292del XP_011531370.1:p.Tyr98LeufsTer?
XM_011533069.1:c.69_70del XP_011531371.1:p.Tyr24LeufsTer?
XM_011533070.1:c.36_37del XP_011531372.1:p.Tyr13LeufsTer?
XM_011533071.1:c.36_37del XP_011531373.1:p.Tyr13LeufsTer?
XM_011533072.1:c.36_37del XP_011531374.1:p.Tyr13LeufsTer?
XM_011533069.2:c.69_70del XP_011531371.1:p.Tyr24LeufsTer?
XM_011533072.2:c.36_37del XP_011531374.1:p.Tyr13LeufsTer?
NM_000348.4:c.291_292del MANE Select NP_000339.2:p.Tyr98LeufsTer?