Canonical Allele Identifier: CA16613797
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406554
ClinVar RCV Id: RCV000458870
dbSNP Id: rs1064792929
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32821418_32821420delinsTTTTGGCGAT , CM000674.2:g.32821418_32821420delinsTTTTGGCGAT GRCh38
NC_000012.11:g.32974352_32974354delinsTTTTGGCGAT , CM000674.1:g.32974352_32974354delinsTTTTGGCGAT GRCh37
NC_000012.10:g.32865619_32865621delinsTTTTGGCGAT NCBI36
NG_009000.1:g.80427_80429delinsATCGCCAAAA , LRG_398:g.80427_80429delinsATCGCCAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000700555.2:n.452_454delinsATCGCCAAAA
ENST00000700559.2:c.1949_1951delinsATCGCCAAAA ENSP00000515065.2:p.Val650AspfsTer?
ENST00000700563.2:c.1949_1951delinsATCGCCAAAA ENSP00000515066.2:p.Val650AspfsTer?
ENST00000546498.2:n.636_638delinsATCGCCAAAA
ENST00000549461.2:n.488_490delinsATCGCCAAAA
ENST00000700555.1:c.380_382delinsATCGCCAAAA ENSP00000515062.1:p.Val127AspfsTer?
ENST00000700556.1:c.420_422delinsATCGCCAAAA
ENST00000700558.1:n.163_165delinsATCGCCAAAA
ENST00000700559.1:c.1164_1166delinsATCGCCAAAA
ENST00000700560.1:n.1164_1166delinsATCGCCAAAA
ENST00000700561.1:n.1290_1292delinsATCGCCAAAA
ENST00000700562.1:n.487_489delinsATCGCCAAAA
ENST00000700563.1:c.1903_1905delinsATCGCCAAAA
ENST00000700564.1:n.1953_1955delinsATCGCCAAAA
ENST00000070846.11:c.2081_2083delinsATCGCCAAAA ENSP00000070846.6:p.Val694AspfsTer?
ENST00000340811.9:c.1949_1951delinsATCGCCAAAA MANE Select ENSP00000342800.5:p.Val650AspfsTer?
ENST00000070846.10:c.2081_2083delinsATCGCCAAAA ENSP00000070846.6:p.Val694AspfsTer?
ENST00000340811.8:c.1949_1951delinsATCGCCAAAA ENSP00000342800.4:p.Val650AspfsTer?
ENST00000549461.1:n.395_397delinsATCGCCAAAA
ENST00000552612.5:n.370_372delinsATCGCCAAAA
ENST00000613243.1:c.2081_2083delinsATCGCCAAAA ENSP00000478295.1:p.Val694AspfsTer?
NM_001005242.2:c.1949_1951delinsATCGCCAAAA NP_001005242.2:p.Val650AspfsTer?
NM_004572.3:c.2081_2083delinsATCGCCAAAA , LRG_398t1:c.2081_2083delinsATCGCCAAAA NP_004563.2:p.Val694AspfsTer?
NM_001005242.3:c.1949_1951delinsATCGCCAAAA MANE Select NP_001005242.2:p.Val650AspfsTer?
NM_004572.4:c.2081_2083delinsATCGCCAAAA NP_004563.2:p.Val694AspfsTer?
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