Canonical Allele Identifier: CA2762537013
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008158_88008161del , CM000666.2:g.88008158_88008161del GRCh38
NC_000004.11:g.88929310_88929313del , CM000666.1:g.88929310_88929313del GRCh37
NC_000004.10:g.89148334_89148337del NCBI36
NG_008604.1:g.5491_5494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.425_428del MANE Select ENSP00000237596.2:p.Gly142AlafsTer?
ENST00000237596.6:c.425_428del ENSP00000237596.2:p.Gly142AlafsTer?
NM_000297.3:c.425_428del NP_000288.1:p.Gly142AlafsTer?
XM_011532028.1:c.425_428del XP_011530330.1:p.Gly142AlafsTer?
XR_244632.2:n.520_523del
NR_156488.1:n.512_515del
XM_011532028.2:c.425_428del XP_011530330.1:p.Gly142AlafsTer?
NM_000297.4:c.425_428del MANE Select NP_000288.1:p.Gly142AlafsTer?
NR_156488.2:n.524_527del