Canonical Allele Identifier: CA553085851
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1187336837
gnomAD v2: 4-88929082-AC-A
gnomAD v3: 4-88007930-AC-A
gnomAD v4: 4-88007930-AC-A
MyVariant Identifiers: chr4:g.88929083del (hg19) chr4:g.88007931del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007936del , CM000666.2:g.88007936del GRCh38
NC_000004.11:g.88929088del , CM000666.1:g.88929088del GRCh37
NC_000004.10:g.89148112del NCBI36
NG_008604.1:g.5269del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.203del MANE Select ENSP00000237596.2:p.Pro68ArgfsTer?
ENST00000237596.6:c.203del ENSP00000237596.2:p.Pro68ArgfsTer?
NM_000297.3:c.203del NP_000288.1:p.Pro68ArgfsTer?
XM_011532028.1:c.203del XP_011530330.1:p.Pro68ArgfsTer?
XR_244632.2:n.298del
NR_156488.1:n.290del
XM_011532028.2:c.203del XP_011530330.1:p.Pro68ArgfsTer?
NM_000297.4:c.203del MANE Select NP_000288.1:p.Pro68ArgfsTer?
NR_156488.2:n.302del
Search 100 bp 5'
Search 100 bp 3'