Canonical Allele Identifier: CA2575118465
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841239del , CM000674.2:g.32841239del GRCh38
NC_000012.11:g.32994173del , CM000674.1:g.32994173del GRCh37
NC_000012.10:g.32885440del NCBI36
NG_009000.1:g.60608del , LRG_398:g.60608del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1379-34del ENSP00000515065.2:n.1379-34del
ENST00000700563.2:c.1379-34del ENSP00000515066.2:n.1379-34del
ENST00000700559.1:c.594-34del
ENST00000700560.1:n.594-34del
ENST00000700561.1:n.720-34del
ENST00000700563.1:c.1333-34del
ENST00000700564.1:n.1383-34del
ENST00000700565.1:n.1232-34del
ENST00000070846.11:c.1511-34del ENSP00000070846.6:n.1511-34del
ENST00000340811.9:c.1379-34del MANE Select ENSP00000342800.5:n.1379-34del
ENST00000070846.10:c.1511-34del ENSP00000070846.6:n.1511-34del
ENST00000340811.8:c.1379-34del ENSP00000342800.4:n.1379-34del
ENST00000613243.1:c.1511-34del ENSP00000478295.1:n.1511-34del
NM_001005242.2:c.1379-34del NP_001005242.2:n.1379-34del
NM_004572.3:c.1511-34del , LRG_398t1:c.1511-34del NP_004563.2:n.1511-34del
NM_001005242.3:c.1379-34del MANE Select NP_001005242.2:n.1379-34del
NM_004572.4:c.1511-34del NP_004563.2:n.1511-34del