Canonical Allele Identifier: CA3003732
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2514777
ClinVar RCV Id: RCV003248705
dbSNP Id: rs756765752
ExAC: 4:88929471 G / C
gnomAD v2: 4-88929471-G-C
gnomAD v4: 4-88008319-G-C
MyVariant Identifiers: chr4:g.88929471G>C (hg19) chr4:g.88008319G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

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