Canonical Allele Identifier: CA357626124
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 636969
ClinVar RCV Id: RCV000788947
dbSNP Id: rs1578111407
gnomAD v4: 4-88008040-G-A
MyVariant Identifiers: chr4:g.88929192G>A (hg19) chr4:g.88008040G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008040G>A , CM000666.2:g.88008040G>A GRCh38
NC_000004.11:g.88929192G>A , CM000666.1:g.88929192G>A GRCh37
NC_000004.10:g.89148216G>A NCBI36
NG_008604.1:g.5373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.307G>A MANE Select ENSP00000237596.2:p.Val103Met
ENST00000237596.6:c.307G>A ENSP00000237596.2:p.Val103Met
NM_000297.3:c.307G>A NP_000288.1:p.Val103Met
XM_011532028.1:c.307G>A XP_011530330.1:p.Val103Met
XR_244632.2:n.402G>A
NR_156488.1:n.394G>A
XM_011532028.2:c.307G>A XP_011530330.1:p.Val103Met
NM_000297.4:c.307G>A MANE Select NP_000288.1:p.Val103Met
NR_156488.2:n.406G>A
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