Canonical Allele Identifier: CA2695216176

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796137del , CM000674.2:g.32796137del	GRCh38
NC_000012.11:g.32949071del , CM000674.1:g.32949071del	GRCh37
NC_000012.10:g.32840338del	NCBI36
NG_009000.1:g.105713del , LRG_398:g.105713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.835del
ENST00000700557.2:n.424del
ENST00000700559.2:c.2168-3403del	ENSP00000515065.2:n.2168-3403del
ENST00000546498.2:n.1019del
ENST00000549461.2:n.824del
ENST00000700555.1:c.763del	ENSP00000515062.1:p.Ile255LeufsTer?
ENST00000700556.1:c.803del
ENST00000700557.1:c.343del	ENSP00000515064.1:p.Ile115LeufsTer?
ENST00000700558.1:n.546del
ENST00000700559.1:c.1383-3403del
ENST00000700560.1:n.1547del
ENST00000700561.1:n.1673del
ENST00000070846.11:c.2464del	ENSP00000070846.6:p.Ile822LeufsTer?
ENST00000340811.9:c.2332del MANE Select	ENSP00000342800.5:p.Ile778LeufsTer?
ENST00000070846.10:c.2464del	ENSP00000070846.6:p.Ile822LeufsTer?
ENST00000340811.8:c.2332del	ENSP00000342800.4:p.Ile778LeufsTer?
ENST00000613243.1:c.2462del	ENSP00000478295.1:p.Asn821IlefsTer?
NM_001005242.2:c.2332del	NP_001005242.2:p.Ile778LeufsTer?
NM_004572.3:c.2464del , LRG_398t1:c.2464del	NP_004563.2:p.Ile822LeufsTer?
NM_001005242.3:c.2332del MANE Select	NP_001005242.2:p.Ile778LeufsTer?
NM_004572.4:c.2464del	NP_004563.2:p.Ile822LeufsTer?