Canonical Allele Identifier: CA2695199062

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792432del , CM000674.2:g.32792432del	GRCh38
NC_000012.11:g.32945366del , CM000674.1:g.32945366del	GRCh37
NC_000012.10:g.32836633del	NCBI36
NG_009000.1:g.109417del , LRG_398:g.109417del

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.2508del MANE Select	NP_001005242.2:p.Asp837ThrfsTer?
ENST00000340811.9:c.2508del MANE Select	ENSP00000342800.5:p.Asp837ThrfsTer?
NM_001005242.2:c.2508del	NP_001005242.2:p.Asp837ThrfsTer?
NM_004572.3:c.2640del , LRG_398t1:c.2640del	NP_004563.2:p.Asp881ThrfsTer?
NM_004572.4:c.2640del	NP_004563.2:p.Asp881ThrfsTer?
ENST00000070846.10:c.2640del	ENSP00000070846.6:p.Asp881ThrfsTer?
ENST00000070846.11:c.2640del	ENSP00000070846.6:p.Asp881ThrfsTer?
ENST00000340811.8:c.2508del	ENSP00000342800.4:p.Asp837ThrfsTer?
ENST00000546498.2:n.1195del
ENST00000546769.1:n.295del
ENST00000549461.2:n.1000del
ENST00000613243.1:c.2638del	ENSP00000478295.1:n.2638del
ENST00000700555.1:c.939del	ENSP00000515062.1:p.Asp314ThrfsTer?
ENST00000700555.2:n.1011del
ENST00000700556.1:c.979del
ENST00000700557.1:c.519del	ENSP00000515064.1:p.Asp174ThrfsTer?
ENST00000700557.2:n.600del
ENST00000700558.1:n.722del
ENST00000700559.1:c.1533del
ENST00000700559.2:c.2318del	ENSP00000515065.2:p.Lys773ArgfsTer?
ENST00000700560.1:n.1874del