Canonical Allele Identifier: CA10618562
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350015
ClinVar RCV Id: RCV000397910
dbSNP Id: rs886059696
gnomAD v2: 4-88929287-G-A
gnomAD v3: 4-88008135-G-A
gnomAD v4: 4-88008135-G-A
MyVariant Identifiers: chr4:g.88929287G>A (hg19) chr4:g.88008135G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008135G>A , CM000666.2:g.88008135G>A GRCh38
NC_000004.11:g.88929287G>A , CM000666.1:g.88929287G>A GRCh37
NC_000004.10:g.89148311G>A NCBI36
NG_008604.1:g.5468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.402G>A MANE Select ENSP00000237596.2:p.Val134=
ENST00000237596.6:c.402G>A ENSP00000237596.2:p.Val134=
NM_000297.3:c.402G>A NP_000288.1:p.Val134=
XM_011532028.1:c.402G>A XP_011530330.1:p.Val134=
XR_244632.2:n.497G>A
NR_156488.1:n.489G>A
XM_011532028.2:c.402G>A XP_011530330.1:p.Val134=
NM_000297.4:c.402G>A MANE Select NP_000288.1:p.Val134=
NR_156488.2:n.501G>A
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