Canonical Allele Identifier: CA3003716
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 905785
ClinVar RCV Id: RCV001154524 RCV003746583
dbSNP Id: rs751221093
ExAC: 4:88929088 C / A
gnomAD v2: 4-88929088-C-A
gnomAD v3: 4-88007936-C-A
gnomAD v4: 4-88007936-C-A
MyVariant Identifiers: chr4:g.88929088C>A (hg19) chr4:g.88007936C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007936C>A , CM000666.2:g.88007936C>A GRCh38
NC_000004.11:g.88929088C>A , CM000666.1:g.88929088C>A GRCh37
NC_000004.10:g.89148112C>A NCBI36
NG_008604.1:g.5269C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.203C>A MANE Select ENSP00000237596.2:p.Pro68Gln
ENST00000237596.6:c.203C>A ENSP00000237596.2:p.Pro68Gln
NM_000297.3:c.203C>A NP_000288.1:p.Pro68Gln
XM_011532028.1:c.203C>A XP_011530330.1:p.Pro68Gln
XR_244632.2:n.298C>A
NR_156488.1:n.290C>A
XM_011532028.2:c.203C>A XP_011530330.1:p.Pro68Gln
NM_000297.4:c.203C>A MANE Select NP_000288.1:p.Pro68Gln
NR_156488.2:n.302C>A
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