Canonical Allele Identifier: CA357627231
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 997357
ClinVar RCV Id: RCV001292452
dbSNP Id: rs756765752
gnomAD v4: 4-88008319-G-A
MyVariant Identifiers: chr4:g.88929471G>A (hg19) chr4:g.88008319G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008319G>A , CM000666.2:g.88008319G>A GRCh38
NC_000004.11:g.88929471G>A , CM000666.1:g.88929471G>A GRCh37
NC_000004.10:g.89148495G>A NCBI36
NG_008604.1:g.5652G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.586G>A MANE Select ENSP00000237596.2:p.Gly196Arg
ENST00000237596.6:c.586G>A ENSP00000237596.2:p.Gly196Arg
ENST00000506727.1:n.88G>A
NM_000297.3:c.586G>A NP_000288.1:p.Gly196Arg
XM_011532028.1:c.586G>A XP_011530330.1:p.Gly196Arg
XR_244632.2:n.681G>A
NR_156488.1:n.673G>A
XM_011532028.2:c.586G>A XP_011530330.1:p.Gly196Arg
NM_000297.4:c.586G>A MANE Select NP_000288.1:p.Gly196Arg
NR_156488.2:n.685G>A
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