Canonical Allele Identifier: CA16619518
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422887
ClinVar RCV Id: RCV001851243
dbSNP Id: rs1064796069
MyVariant Identifiers: chr12:g.32993969_32993976del (hg19) chr12:g.32841035_32841042del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841036_32841043del , CM000674.2:g.32841036_32841043del GRCh38
NC_000012.11:g.32993970_32993977del , CM000674.1:g.32993970_32993977del GRCh37
NC_000012.10:g.32885237_32885244del NCBI36
NG_009000.1:g.60805_60812del , LRG_398:g.60805_60812del

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.1542_1549del ENSP00000515065.2:p.Thr515ProfsTer10
ENST00000700563.2:c.1542_1549del ENSP00000515066.2:p.Thr515ProfsTer10
ENST00000700556.1:c.13_20del
ENST00000700559.1:c.757_764del
ENST00000700560.1:n.757_764del
ENST00000700561.1:n.883_890del
ENST00000700563.1:c.1496_1503del
ENST00000700564.1:n.1546_1553del
ENST00000700565.1:n.1395_1402del
ENST00000070846.11:c.1674_1681del ENSP00000070846.6:p.Thr559ProfsTer10
ENST00000340811.9:c.1542_1549del MANE Select ENSP00000342800.5:p.Thr515ProfsTer10
ENST00000070846.10:c.1674_1681del ENSP00000070846.6:p.Thr559ProfsTer10
ENST00000340811.8:c.1542_1549del ENSP00000342800.4:p.Thr515ProfsTer10
ENST00000613243.1:c.1674_1681del ENSP00000478295.1:p.Thr559ProfsTer10
NM_001005242.2:c.1542_1549del NP_001005242.2:p.Thr515ProfsTer10
NM_004572.3:c.1674_1681del , LRG_398t1:c.1674_1681del NP_004563.2:p.Thr559ProfsTer10
NM_001005242.3:c.1542_1549del MANE Select NP_001005242.2:p.Thr515ProfsTer10
NM_004572.4:c.1674_1681del NP_004563.2:p.Thr559ProfsTer10
Search 100 bp 5'
Search 100 bp 3'