Canonical Allele Identifier: CA2698934705
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs2148063368

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529312del , CM000664.2:g.31529312del GRCh38
NC_000002.11:g.31754382del , CM000664.1:g.31754382del GRCh37
NC_000002.10:g.31607886del NCBI36
NG_008365.1:g.56661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.694del MANE Select ENSP00000477587.1:p.His232IlefsTer?
ENST00000622030.1:c.694del ENSP00000477587.1:p.His232IlefsTer?
NM_000348.3:c.694del NP_000339.2:p.His232IlefsTer?
XM_011533069.1:c.472del XP_011531371.1:p.His158IlefsTer?
XM_011533070.1:c.439del XP_011531372.1:p.His147IlefsTer?
XM_011533071.1:c.439del XP_011531373.1:p.His147IlefsTer?
XM_011533072.1:c.439del XP_011531374.1:p.His147IlefsTer?
XM_011533069.2:c.472del XP_011531371.1:p.His158IlefsTer?
XM_011533072.2:c.439del XP_011531374.1:p.His147IlefsTer?
NM_000348.4:c.694del MANE Select NP_000339.2:p.His232IlefsTer?