Canonical Allele Identifier: CA2698935712
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs2148065138

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531424_31531425del , CM000664.2:g.31531424_31531425del GRCh38
NC_000002.11:g.31756494_31756495del , CM000664.1:g.31756494_31756495del GRCh37
NC_000002.10:g.31609998_31609999del NCBI36
NG_008365.1:g.54552_54553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.498_499del MANE Select ENSP00000477587.1:p.Leu167AlafsTer?
ENST00000622030.1:c.498_499del ENSP00000477587.1:p.Leu167AlafsTer?
NM_000348.3:c.498_499del NP_000339.2:p.Leu167AlafsTer?
XM_011533069.1:c.276_277del XP_011531371.1:p.Leu93AlafsTer?
XM_011533070.1:c.243_244del XP_011531372.1:p.Leu82AlafsTer?
XM_011533071.1:c.243_244del XP_011531373.1:p.Leu82AlafsTer?
XM_011533072.1:c.243_244del XP_011531374.1:p.Leu82AlafsTer?
XM_011533069.2:c.276_277del XP_011531371.1:p.Leu93AlafsTer?
XM_011533072.2:c.243_244del XP_011531374.1:p.Leu82AlafsTer?
NM_000348.4:c.498_499del MANE Select NP_000339.2:p.Leu167AlafsTer?