Canonical Allele Identifier: CA799592428
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1202458397
gnomAD v3: 4-88007681-C-A
gnomAD v4: 4-88007681-C-A
MyVariant Identifiers: chr4:g.88928833C>A (hg19) chr4:g.88007681C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007681C>A , CM000666.2:g.88007681C>A GRCh38
NC_000004.11:g.88928833C>A , CM000666.1:g.88928833C>A GRCh37
NC_000004.10:g.89147857C>A NCBI36
NG_008604.1:g.5014C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-53C>A MANE Select ENSP00000237596.2:n.-53C>A
ENST00000237596.6:c.-53C>A ENSP00000237596.2:n.-53C>A
NM_000297.3:c.-53C>A NP_000288.1:n.-53C>A
XM_011532028.1:c.-53C>A XP_011530330.1:n.-53C>A
XR_244632.2:n.43C>A
NR_156488.1:n.35C>A
XM_011532028.2:c.-53C>A XP_011530330.1:n.-53C>A
NM_000297.4:c.-53C>A MANE Select NP_000288.1:n.-53C>A
NR_156488.2:n.47C>A
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