Canonical Allele Identifier: CA357624744
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2078491
ClinVar RCV Id: RCV002988662
dbSNP Id: rs1477510994
gnomAD v2: 4-88928887-T-A
gnomAD v3: 4-88007735-T-A
gnomAD v4: 4-88007735-T-A
MyVariant Identifiers: chr4:g.88928887T>A (hg19) chr4:g.88007735T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007735T>A , CM000666.2:g.88007735T>A GRCh38
NC_000004.11:g.88928887T>A , CM000666.1:g.88928887T>A GRCh37
NC_000004.10:g.89147911T>A NCBI36
NG_008604.1:g.5068T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2T>A MANE Select ENSP00000237596.2:p.Met1Lys
ENST00000237596.6:c.2T>A ENSP00000237596.2:p.Met1Lys
NM_000297.3:c.2T>A NP_000288.1:p.Met1Lys
XM_011532028.1:c.2T>A XP_011530330.1:p.Met1Lys
XR_244632.2:n.97T>A
NR_156488.1:n.89T>A
XM_011532028.2:c.2T>A XP_011530330.1:p.Met1Lys
NM_000297.4:c.2T>A MANE Select NP_000288.1:p.Met1Lys
NR_156488.2:n.101T>A
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Search 100 bp 3'