Canonical Allele Identifier: CA440296918
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 756955
ClinVar RCV Id: RCV000934502
dbSNP Id: rs1190814257
gnomAD v2: 4-88929323-C-A
gnomAD v3: 4-88008171-C-A
gnomAD v4: 4-88008171-C-A
MyVariant Identifiers: chr4:g.88929323C>A (hg19) chr4:g.88008171C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008171C>A , CM000666.2:g.88008171C>A GRCh38
NC_000004.11:g.88929323C>A , CM000666.1:g.88929323C>A GRCh37
NC_000004.10:g.89148347C>A NCBI36
NG_008604.1:g.5504C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.438C>A MANE Select ENSP00000237596.2:p.Gly146=
ENST00000237596.6:c.438C>A ENSP00000237596.2:p.Gly146=
NM_000297.3:c.438C>A NP_000288.1:p.Gly146=
XM_011532028.1:c.438C>A XP_011530330.1:p.Gly146=
XR_244632.2:n.533C>A
NR_156488.1:n.525C>A
XM_011532028.2:c.438C>A XP_011530330.1:p.Gly146=
NM_000297.4:c.438C>A MANE Select NP_000288.1:p.Gly146=
NR_156488.2:n.537C>A
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