Canonical Allele Identifier: CA2026352677
Gene: PKP2 HGNC NCBI

Linked Data

dbSNP Id: rs1956962876

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32879070del , CM000674.2:g.32879070del GRCh38
NC_000012.11:g.33032004del , CM000674.1:g.33032004del GRCh37
NC_000012.10:g.32923271del NCBI36
NG_009000.1:g.22778del , LRG_398:g.22778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.224-37del ENSP00000515065.2:n.224-37del
ENST00000700563.2:c.224-37del ENSP00000515066.2:n.224-37del
ENST00000700563.1:c.178-37del
ENST00000700564.1:n.228-37del
ENST00000700565.1:n.77-37del
ENST00000070846.11:c.224-37del ENSP00000070846.6:n.224-37del
ENST00000340811.9:c.224-37del MANE Select ENSP00000342800.5:n.224-37del
ENST00000070846.10:c.224-37del ENSP00000070846.6:n.224-37del
ENST00000340811.8:c.224-37del ENSP00000342800.4:n.224-37del
ENST00000613243.1:c.224-37del ENSP00000478295.1:n.224-37del
NM_001005242.2:c.224-37del NP_001005242.2:n.224-37del
NM_004572.3:c.224-37del , LRG_398t1:c.224-37del NP_004563.2:n.224-37del
NM_001005242.3:c.224-37del MANE Select NP_001005242.2:n.224-37del
NM_004572.4:c.224-37del NP_004563.2:n.224-37del