Canonical Allele Identifier: CA2695203469
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2683951
ClinVar RCV Id: RCV003484552
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008049del , CM000666.2:g.88008049del GRCh38
NC_000004.11:g.88929201del , CM000666.1:g.88929201del GRCh37
NC_000004.10:g.89148225del NCBI36
NG_008604.1:g.5382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.316del MANE Select ENSP00000237596.2:p.Glu106LysfsTer11
ENST00000237596.6:c.316del ENSP00000237596.2:p.Glu106LysfsTer11
NM_000297.3:c.316del NP_000288.1:p.Glu106LysfsTer11
XM_011532028.1:c.316del XP_011530330.1:p.Glu106LysfsTer11
XR_244632.2:n.411del
NR_156488.1:n.403del
XM_011532028.2:c.316del XP_011530330.1:p.Glu106LysfsTer11
NM_000297.4:c.316del MANE Select NP_000288.1:p.Glu106LysfsTer11
NR_156488.2:n.415del
Search 100 bp 5'
Search 100 bp 3'