Canonical Allele Identifier: CA357626239
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1410359671
gnomAD v2: 4-88929219-G-A
gnomAD v4: 4-88008067-G-A
MyVariant Identifiers: chr4:g.88929219G>A (hg19) chr4:g.88008067G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008067G>A , CM000666.2:g.88008067G>A GRCh38
NC_000004.11:g.88929219G>A , CM000666.1:g.88929219G>A GRCh37
NC_000004.10:g.89148243G>A NCBI36
NG_008604.1:g.5400G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.334G>A MANE Select ENSP00000237596.2:p.Val112Met
ENST00000237596.6:c.334G>A ENSP00000237596.2:p.Val112Met
NM_000297.3:c.334G>A NP_000288.1:p.Val112Met
XM_011532028.1:c.334G>A XP_011530330.1:p.Val112Met
XR_244632.2:n.429G>A
NR_156488.1:n.421G>A
XM_011532028.2:c.334G>A XP_011530330.1:p.Val112Met
NM_000297.4:c.334G>A MANE Select NP_000288.1:p.Val112Met
NR_156488.2:n.433G>A
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