Canonical Allele Identifier: CA357627124
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 994725
ClinVar RCV Id: RCV001288349 RCV001844856
dbSNP Id: rs1726258048
gnomAD v4: 4-88008289-C-T
MyVariant Identifiers: chr4:g.88929441C>T (hg19) chr4:g.88008289C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008289C>T , CM000666.2:g.88008289C>T GRCh38
NC_000004.11:g.88929441C>T , CM000666.1:g.88929441C>T GRCh37
NC_000004.10:g.89148465C>T NCBI36
NG_008604.1:g.5622C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.556C>T MANE Select ENSP00000237596.2:p.Arg186Ter
ENST00000237596.6:c.556C>T ENSP00000237596.2:p.Arg186Ter
ENST00000506727.1:n.58C>T
NM_000297.3:c.556C>T NP_000288.1:p.Arg186Ter
XM_011532028.1:c.556C>T XP_011530330.1:p.Arg186Ter
XR_244632.2:n.651C>T
NR_156488.1:n.643C>T
XM_011532028.2:c.556C>T XP_011530330.1:p.Arg186Ter
NM_000297.4:c.556C>T MANE Select NP_000288.1:p.Arg186Ter
NR_156488.2:n.655C>T
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