Canonical Allele Identifier: CA658657391
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 448037
dbSNP Id: rs1232369409

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008247del , CM000666.2:g.88008247del GRCh38
NC_000004.11:g.88929399del , CM000666.1:g.88929399del GRCh37
NC_000004.10:g.89148423del NCBI36
NG_008604.1:g.5580del

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.514del MANE Select ENSP00000237596.2:p.Asp172ThrfsTer?
ENST00000237596.6:c.514del ENSP00000237596.2:p.Asp172ThrfsTer?
ENST00000506727.1:n.16del
NM_000297.3:c.514del NP_000288.1:p.Asp172ThrfsTer?
XM_011532028.1:c.514del XP_011530330.1:p.Asp172ThrfsTer?
XR_244632.2:n.609del
NR_156488.1:n.601del
XM_011532028.2:c.514del XP_011530330.1:p.Asp172ThrfsTer?
NM_000297.4:c.514del MANE Select NP_000288.1:p.Asp172ThrfsTer?
NR_156488.2:n.613del