Canonical Allele Identifier: CA357626352
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2919286
ClinVar RCV Id: RCV003747663
dbSNP Id: rs748654180
gnomAD v4: 4-88008089-G-C
MyVariant Identifiers: chr4:g.88929241G>C (hg19) chr4:g.88008089G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008089G>C , CM000666.2:g.88008089G>C GRCh38
NC_000004.11:g.88929241G>C , CM000666.1:g.88929241G>C GRCh37
NC_000004.10:g.89148265G>C NCBI36
NG_008604.1:g.5422G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.356G>C MANE Select ENSP00000237596.2:p.Arg119Pro
ENST00000237596.6:c.356G>C ENSP00000237596.2:p.Arg119Pro
NM_000297.3:c.356G>C NP_000288.1:p.Arg119Pro
XM_011532028.1:c.356G>C XP_011530330.1:p.Arg119Pro
XR_244632.2:n.451G>C
NR_156488.1:n.443G>C
XM_011532028.2:c.356G>C XP_011530330.1:p.Arg119Pro
NM_000297.4:c.356G>C MANE Select NP_000288.1:p.Arg119Pro
NR_156488.2:n.455G>C
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