Canonical Allele Identifier: CA440297031
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2100528
ClinVar RCV Id: RCV003033511
dbSNP Id: rs1726250538
gnomAD v3: 4-88008228-C-T
gnomAD v4: 4-88008228-C-T
MyVariant Identifiers: chr4:g.88929380C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008228C>T , CM000666.2:g.88008228C>T GRCh38
NC_000004.11:g.88929380C>T , CM000666.1:g.88929380C>T GRCh37
NC_000004.10:g.89148404C>T NCBI36
NG_008604.1:g.5561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.495C>T MANE Select ENSP00000237596.2:p.Pro165=
ENST00000237596.6:c.495C>T ENSP00000237596.2:p.Pro165=
NM_000297.3:c.495C>T NP_000288.1:p.Pro165=
XM_011532028.1:c.495C>T XP_011530330.1:p.Pro165=
XR_244632.2:n.590C>T
NR_156488.1:n.582C>T
XM_011532028.2:c.495C>T XP_011530330.1:p.Pro165=
NM_000297.4:c.495C>T MANE Select NP_000288.1:p.Pro165=
NR_156488.2:n.594C>T
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