Canonical Allele Identifier: CA2618226473

Gene: PKP2

Linked Data

• gnomAD v4: 12-32869086-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869088del , CM000674.2:g.32869088del	GRCh38
NC_000012.11:g.33022022del , CM000674.1:g.33022022del	GRCh37
NC_000012.10:g.32913289del	NCBI36
NG_009000.1:g.32760del , LRG_398:g.32760del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1035-25del	ENSP00000515065.2:n.1035-25del
ENST00000700563.2:c.1035-25del	ENSP00000515066.2:n.1035-25del
ENST00000700559.1:c.250-25del
ENST00000700560.1:n.250-25del
ENST00000700561.1:n.376-25del
ENST00000700563.1:c.989-25del
ENST00000700564.1:n.1039-25del
ENST00000700565.1:n.888-25del
ENST00000070846.11:c.1035-25del	ENSP00000070846.6:n.1035-25del
ENST00000340811.9:c.1035-25del MANE Select	ENSP00000342800.5:n.1035-25del
ENST00000070846.10:c.1035-25del	ENSP00000070846.6:n.1035-25del
ENST00000340811.8:c.1035-25del	ENSP00000342800.4:n.1035-25del
ENST00000613243.1:c.1035-25del	ENSP00000478295.1:n.1035-25del
NM_001005242.2:c.1035-25del	NP_001005242.2:n.1035-25del
NM_004572.3:c.1035-25del , LRG_398t1:c.1035-25del	NP_004563.2:n.1035-25del
NM_001005242.3:c.1035-25del MANE Select	NP_001005242.2:n.1035-25del
NM_004572.4:c.1035-25del	NP_004563.2:n.1035-25del