Canonical Allele Identifier: CA2618226825

Gene: PKP2

Linked Data

• gnomAD v4: 12-32878936-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878940del , CM000674.2:g.32878940del	GRCh38
NC_000012.11:g.33031874del , CM000674.1:g.33031874del	GRCh37
NC_000012.10:g.32923141del	NCBI36
NG_009000.1:g.22910del , LRG_398:g.22910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.319del	ENSP00000515065.2:p.Thr107ProfsTer5
ENST00000700563.2:c.319del	ENSP00000515066.2:p.Thr107ProfsTer5
ENST00000700563.1:c.273del
ENST00000700564.1:n.323del
ENST00000700565.1:n.172del
ENST00000070846.11:c.319del	ENSP00000070846.6:p.Thr107ProfsTer5
ENST00000340811.9:c.319del MANE Select	ENSP00000342800.5:p.Thr107ProfsTer5
ENST00000070846.10:c.319del	ENSP00000070846.6:p.Thr107ProfsTer5
ENST00000340811.8:c.319del	ENSP00000342800.4:p.Thr107ProfsTer5
ENST00000613243.1:c.319del	ENSP00000478295.1:p.Thr107ProfsTer5
NM_001005242.2:c.319del	NP_001005242.2:p.Thr107ProfsTer5
NM_004572.3:c.319del , LRG_398t1:c.319del	NP_004563.2:p.Thr107ProfsTer5
NM_001005242.3:c.319del MANE Select	NP_001005242.2:p.Thr107ProfsTer5
NM_004572.4:c.319del	NP_004563.2:p.Thr107ProfsTer5