Canonical Allele Identifier: CA799592622
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1344891
ClinVar RCV Id: RCV001849893 RCV003401761
dbSNP Id: rs1474473957
gnomAD v4: 4-88007773-GA-G
MyVariant Identifiers: chr4:g.88928926del (hg19) chr4:g.88007774del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007774del , CM000666.2:g.88007774del GRCh38
NC_000004.11:g.88928926del , CM000666.1:g.88928926del GRCh37
NC_000004.10:g.89147950del NCBI36
NG_008604.1:g.5107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.41del MANE Select ENSP00000237596.2:p.Asp14AlafsTer16
ENST00000237596.6:c.41del ENSP00000237596.2:p.Asp14AlafsTer16
NM_000297.3:c.41del NP_000288.1:p.Asp14AlafsTer16
XM_011532028.1:c.41del XP_011530330.1:p.Asp14AlafsTer16
XR_244632.2:n.136del
NR_156488.1:n.128del
XM_011532028.2:c.41del XP_011530330.1:p.Asp14AlafsTer16
NM_000297.4:c.41del MANE Select NP_000288.1:p.Asp14AlafsTer16
NR_156488.2:n.140del
Search 100 bp 5'
Search 100 bp 3'