Canonical Allele Identifier: CA2580617712

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2578524
• ClinVar RCV Id: RCV003326299

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802414del , CM000674.2:g.32802414del	GRCh38
NC_000012.11:g.32955348del , CM000674.1:g.32955348del	GRCh37
NC_000012.10:g.32846615del	NCBI36
NG_009000.1:g.99433del , LRG_398:g.99433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.659del
ENST00000700557.2:n.248del
ENST00000700559.2:c.2156del	ENSP00000515065.2:p.Gln719ArgfsTer12
ENST00000546498.2:n.843del
ENST00000549461.2:n.659+36del
ENST00000700555.1:c.587del	ENSP00000515062.1:p.Gln196ArgfsTer?
ENST00000700556.1:c.627del
ENST00000700557.1:c.167del	ENSP00000515064.1:p.Gln56ArgfsTer?
ENST00000700558.1:n.370del
ENST00000700559.1:c.1371del
ENST00000700560.1:n.1371del
ENST00000700561.1:n.1497del
ENST00000070846.11:c.2288del	ENSP00000070846.6:p.Gln763ArgfsTer?
ENST00000340811.9:c.2156del MANE Select	ENSP00000342800.5:p.Gln719ArgfsTer?
ENST00000070846.10:c.2288del	ENSP00000070846.6:p.Gln763ArgfsTer?
ENST00000340811.8:c.2156del	ENSP00000342800.4:p.Gln719ArgfsTer?
ENST00000613243.1:c.2288del	ENSP00000478295.1:p.Gln763ArgfsTer?
NM_001005242.2:c.2156del	NP_001005242.2:p.Gln719ArgfsTer?
NM_004572.3:c.2288del , LRG_398t1:c.2288del	NP_004563.2:p.Gln763ArgfsTer?
NM_001005242.3:c.2156del MANE Select	NP_001005242.2:p.Gln719ArgfsTer?
NM_004572.4:c.2288del	NP_004563.2:p.Gln763ArgfsTer?