Canonical Allele Identifier: CA2026352521
Gene: PKP2 HGNC NCBI

Linked Data

dbSNP Id: rs1956961847

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878992del , CM000674.2:g.32878992del GRCh38
NC_000012.11:g.33031926del , CM000674.1:g.33031926del GRCh37
NC_000012.10:g.32923193del NCBI36
NG_009000.1:g.22855del , LRG_398:g.22855del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.264del ENSP00000515065.2:p.Tyr88Ter
ENST00000700563.2:c.264del ENSP00000515066.2:p.Tyr88Ter
ENST00000700563.1:c.218del
ENST00000700564.1:n.268del
ENST00000700565.1:n.117del
ENST00000070846.11:c.264del ENSP00000070846.6:p.Tyr88Ter
ENST00000340811.9:c.264del MANE Select ENSP00000342800.5:p.Tyr88Ter
ENST00000070846.10:c.264del ENSP00000070846.6:p.Tyr88Ter
ENST00000340811.8:c.264del ENSP00000342800.4:p.Tyr88Ter
ENST00000613243.1:c.264del ENSP00000478295.1:p.Tyr88Ter
NM_001005242.2:c.264del NP_001005242.2:p.Tyr88Ter
NM_004572.3:c.264del , LRG_398t1:c.264del NP_004563.2:p.Tyr88Ter
NM_001005242.3:c.264del MANE Select NP_001005242.2:p.Tyr88Ter
NM_004572.4:c.264del NP_004563.2:p.Tyr88Ter