Canonical Allele Identifier: CA2695203471
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008072del , CM000666.2:g.88008072del GRCh38
NC_000004.11:g.88929224del , CM000666.1:g.88929224del GRCh37
NC_000004.10:g.89148248del NCBI36
NG_008604.1:g.5405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.339del MANE Select ENSP00000237596.2:p.Met114TrpfsTer3
ENST00000237596.6:c.339del ENSP00000237596.2:p.Met114TrpfsTer3
NM_000297.3:c.339del NP_000288.1:p.Met114TrpfsTer3
XM_011532028.1:c.339del XP_011530330.1:p.Met114TrpfsTer3
XR_244632.2:n.434del
NR_156488.1:n.426del
XM_011532028.2:c.339del XP_011530330.1:p.Met114TrpfsTer3
NM_000297.4:c.339del MANE Select NP_000288.1:p.Met114TrpfsTer3
NR_156488.2:n.438del