Canonical Allele Identifier: CA357626346
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054584
ClinVar RCV Id: RCV001363109
dbSNP Id: rs1348377640
gnomAD v2: 4-88929240-C-A
gnomAD v4: 4-88008088-C-A
MyVariant Identifiers: chr4:g.88929240C>A (hg19) chr4:g.88008088C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008088C>A , CM000666.2:g.88008088C>A GRCh38
NC_000004.11:g.88929240C>A , CM000666.1:g.88929240C>A GRCh37
NC_000004.10:g.89148264C>A NCBI36
NG_008604.1:g.5421C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.355C>A MANE Select ENSP00000237596.2:p.Arg119Ser
ENST00000237596.6:c.355C>A ENSP00000237596.2:p.Arg119Ser
NM_000297.3:c.355C>A NP_000288.1:p.Arg119Ser
XM_011532028.1:c.355C>A XP_011530330.1:p.Arg119Ser
XR_244632.2:n.450C>A
NR_156488.1:n.442C>A
XM_011532028.2:c.355C>A XP_011530330.1:p.Arg119Ser
NM_000297.4:c.355C>A MANE Select NP_000288.1:p.Arg119Ser
NR_156488.2:n.454C>A
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