Canonical Allele Identifier: CA440296530
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2727575
ClinVar RCV Id: RCV003584063
dbSNP Id: rs1430133880
gnomAD v2: 4-88929008-C-T
gnomAD v3: 4-88007856-C-T
gnomAD v4: 4-88007856-C-T
MyVariant Identifiers: chr4:g.88929008C>T (hg19) chr4:g.88007856C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007856C>T , CM000666.2:g.88007856C>T GRCh38
NC_000004.11:g.88929008C>T , CM000666.1:g.88929008C>T GRCh37
NC_000004.10:g.89148032C>T NCBI36
NG_008604.1:g.5189C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.123C>T MANE Select ENSP00000237596.2:p.Ala41=
ENST00000237596.6:c.123C>T ENSP00000237596.2:p.Ala41=
NM_000297.3:c.123C>T NP_000288.1:p.Ala41=
XM_011532028.1:c.123C>T XP_011530330.1:p.Ala41=
XR_244632.2:n.218C>T
NR_156488.1:n.210C>T
XM_011532028.2:c.123C>T XP_011530330.1:p.Ala41=
NM_000297.4:c.123C>T MANE Select NP_000288.1:p.Ala41=
NR_156488.2:n.222C>T
Search 100 bp 5'
Search 100 bp 3'