Canonical Allele Identifier: CA2671365190
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007985-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007986del , CM000666.2:g.88007986del GRCh38
NC_000004.11:g.88929138del , CM000666.1:g.88929138del GRCh37
NC_000004.10:g.89148162del NCBI36
NG_008604.1:g.5319del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.253del MANE Select ENSP00000237596.2:p.Gln85ArgfsTer?
ENST00000237596.6:c.253del ENSP00000237596.2:p.Gln85ArgfsTer?
NM_000297.3:c.253del NP_000288.1:p.Gln85ArgfsTer?
XM_011532028.1:c.253del XP_011530330.1:p.Gln85ArgfsTer?
XR_244632.2:n.348del
NR_156488.1:n.340del
XM_011532028.2:c.253del XP_011530330.1:p.Gln85ArgfsTer?
NM_000297.4:c.253del MANE Select NP_000288.1:p.Gln85ArgfsTer?
NR_156488.2:n.352del
Search 100 bp 5'
Search 100 bp 3'