Canonical Allele Identifier: CA2671365171
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007766-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007769del , CM000666.2:g.88007769del GRCh38
NC_000004.11:g.88928921del , CM000666.1:g.88928921del GRCh37
NC_000004.10:g.89147945del NCBI36
NG_008604.1:g.5102del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.36del MANE Select ENSP00000237596.2:p.Asp14ThrfsTer16
ENST00000237596.6:c.36del ENSP00000237596.2:p.Asp14ThrfsTer16
NM_000297.3:c.36del NP_000288.1:p.Asp14ThrfsTer16
XM_011532028.1:c.36del XP_011530330.1:p.Asp14ThrfsTer16
XR_244632.2:n.131del
NR_156488.1:n.123del
XM_011532028.2:c.36del XP_011530330.1:p.Asp14ThrfsTer16
NM_000297.4:c.36del MANE Select NP_000288.1:p.Asp14ThrfsTer16
NR_156488.2:n.135del
Search 100 bp 5'
Search 100 bp 3'