Canonical Allele Identifier: CA357626845
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2365216
ClinVar RCV Id: RCV003000672
dbSNP Id: rs1434116020
gnomAD v2: 4-88929372-C-A
gnomAD v4: 4-88008220-C-A
MyVariant Identifiers: chr4:g.88929372C>A (hg19) chr4:g.88008220C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008220C>A , CM000666.2:g.88008220C>A GRCh38
NC_000004.11:g.88929372C>A , CM000666.1:g.88929372C>A GRCh37
NC_000004.10:g.89148396C>A NCBI36
NG_008604.1:g.5553C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.487C>A MANE Select ENSP00000237596.2:p.Pro163Thr
ENST00000237596.6:c.487C>A ENSP00000237596.2:p.Pro163Thr
NM_000297.3:c.487C>A NP_000288.1:p.Pro163Thr
XM_011532028.1:c.487C>A XP_011530330.1:p.Pro163Thr
XR_244632.2:n.582C>A
NR_156488.1:n.574C>A
XM_011532028.2:c.487C>A XP_011530330.1:p.Pro163Thr
NM_000297.4:c.487C>A MANE Select NP_000288.1:p.Pro163Thr
NR_156488.2:n.586C>A
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