Canonical Allele Identifier: CA2580085398

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822564_32822565del , CM000674.2:g.32822564_32822565del	GRCh38
NC_000012.11:g.32975498_32975499del , CM000674.1:g.32975498_32975499del	GRCh37
NC_000012.10:g.32866765_32866766del	NCBI36
NG_009000.1:g.79283_79284del , LRG_398:g.79283_79284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.254_255del
ENST00000700559.2:c.1742_1743del	ENSP00000515065.2:p.Lys581IlefsTer15
ENST00000700563.2:c.1742_1743del	ENSP00000515066.2:p.Lys581IlefsTer15
ENST00000546498.2:n.429_430del
ENST00000700555.1:c.182_183del	ENSP00000515062.1:p.Lys61IlefsTer15
ENST00000700556.1:c.213_214del
ENST00000700559.1:c.957_958del
ENST00000700560.1:n.957_958del
ENST00000700561.1:n.1083_1084del
ENST00000700563.1:c.1696_1697del
ENST00000700564.1:n.1746_1747del
ENST00000070846.11:c.1874_1875del	ENSP00000070846.6:p.Lys625IlefsTer15
ENST00000340811.9:c.1742_1743del MANE Select	ENSP00000342800.5:p.Lys581IlefsTer15
ENST00000070846.10:c.1874_1875del	ENSP00000070846.6:p.Lys625IlefsTer15
ENST00000340811.8:c.1742_1743del	ENSP00000342800.4:p.Lys581IlefsTer15
ENST00000546498.1:n.429_430del
ENST00000552612.5:n.163_164del
ENST00000613243.1:c.1874_1875del	ENSP00000478295.1:p.Lys625IlefsTer15
NM_001005242.2:c.1742_1743del	NP_001005242.2:p.Lys581IlefsTer15
NM_004572.3:c.1874_1875del , LRG_398t1:c.1874_1875del	NP_004563.2:p.Lys625IlefsTer15
NM_001005242.3:c.1742_1743del MANE Select	NP_001005242.2:p.Lys581IlefsTer15
NM_004572.4:c.1874_1875del	NP_004563.2:p.Lys625IlefsTer15