Canonical Allele Identifier: CA357626207
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1380981
ClinVar RCV Id: RCV001895147
dbSNP Id: rs1726240802
gnomAD v4: 4-88008059-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008059G>T , CM000666.2:g.88008059G>T GRCh38
NC_000004.11:g.88929211G>T , CM000666.1:g.88929211G>T GRCh37
NC_000004.10:g.89148235G>T NCBI36
NG_008604.1:g.5392G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.326G>T MANE Select ENSP00000237596.2:p.Gly109Val
ENST00000237596.6:c.326G>T ENSP00000237596.2:p.Gly109Val
NM_000297.3:c.326G>T NP_000288.1:p.Gly109Val
XM_011532028.1:c.326G>T XP_011530330.1:p.Gly109Val
XR_244632.2:n.421G>T
NR_156488.1:n.413G>T
XM_011532028.2:c.326G>T XP_011530330.1:p.Gly109Val
NM_000297.4:c.326G>T MANE Select NP_000288.1:p.Gly109Val
NR_156488.2:n.425G>T