Canonical Allele Identifier: CA891843016
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 577770
ClinVar RCV Id: RCV000700603
dbSNP Id: rs1560592253
MyVariant Identifiers: chr4:g.88929328del (hg19) chr4:g.88008176del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008176del , CM000666.2:g.88008176del GRCh38
NC_000004.11:g.88929328del , CM000666.1:g.88929328del GRCh37
NC_000004.10:g.89148352del NCBI36
NG_008604.1:g.5509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.443del MANE Select ENSP00000237596.2:p.Gly148AlafsTer?
ENST00000237596.6:c.443del ENSP00000237596.2:p.Gly148AlafsTer?
NM_000297.3:c.443del NP_000288.1:p.Gly148AlafsTer?
XM_011532028.1:c.443del XP_011530330.1:p.Gly148AlafsTer?
XR_244632.2:n.538del
NR_156488.1:n.530del
XM_011532028.2:c.443del XP_011530330.1:p.Gly148AlafsTer?
NM_000297.4:c.443del MANE Select NP_000288.1:p.Gly148AlafsTer?
NR_156488.2:n.542del
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