Canonical Allele Identifier: CA440297070
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2826787
ClinVar RCV Id: RCV003747174
dbSNP Id: rs1726255254
gnomAD v3: 4-88008240-C-T
gnomAD v4: 4-88008240-C-T
MyVariant Identifiers: chr4:g.88929392C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008240C>T , CM000666.2:g.88008240C>T GRCh38
NC_000004.11:g.88929392C>T , CM000666.1:g.88929392C>T GRCh37
NC_000004.10:g.89148416C>T NCBI36
NG_008604.1:g.5573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.507C>T MANE Select ENSP00000237596.2:p.Gly169=
ENST00000237596.6:c.507C>T ENSP00000237596.2:p.Gly169=
ENST00000506727.1:n.9C>T
NM_000297.3:c.507C>T NP_000288.1:p.Gly169=
XM_011532028.1:c.507C>T XP_011530330.1:p.Gly169=
XR_244632.2:n.602C>T
NR_156488.1:n.594C>T
XM_011532028.2:c.507C>T XP_011530330.1:p.Gly169=
NM_000297.4:c.507C>T MANE Select NP_000288.1:p.Gly169=
NR_156488.2:n.606C>T
Search 100 bp 5'
Search 100 bp 3'