Canonical Allele Identifier: CA604480594

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792668del , CM000674.2:g.32792668del	GRCh38
NC_000012.11:g.32945602del , CM000674.1:g.32945602del	GRCh37
NC_000012.10:g.32836869del	NCBI36
NG_009000.1:g.109180del , LRG_398:g.109180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.925del
ENST00000700557.2:n.514del
ENST00000700559.2:c.2232del	ENSP00000515065.2:p.Asn745ThrfsTer11
ENST00000546498.2:n.1109del
ENST00000549461.2:n.914del
ENST00000700555.1:c.853del	ENSP00000515062.1:p.Glu285AsnfsTer?
ENST00000700556.1:c.893del
ENST00000700557.1:c.433del	ENSP00000515064.1:p.Glu145AsnfsTer?
ENST00000700558.1:n.636del
ENST00000700559.1:c.1447del
ENST00000700560.1:n.1637del
ENST00000070846.11:c.2554del	ENSP00000070846.6:p.Glu852AsnfsTer?
ENST00000340811.9:c.2422del MANE Select	ENSP00000342800.5:p.Glu808AsnfsTer?
ENST00000070846.10:c.2554del	ENSP00000070846.6:p.Glu852AsnfsTer?
ENST00000340811.8:c.2422del	ENSP00000342800.4:p.Glu808AsnfsTer?
ENST00000546769.1:n.209del
ENST00000613243.1:c.2552del	ENSP00000478295.1:n.2552del
NM_001005242.2:c.2422del	NP_001005242.2:p.Glu808AsnfsTer?
NM_004572.3:c.2554del , LRG_398t1:c.2554del	NP_004563.2:p.Glu852AsnfsTer?
NM_001005242.3:c.2422del MANE Select	NP_001005242.2:p.Glu808AsnfsTer?
NM_004572.4:c.2554del	NP_004563.2:p.Glu852AsnfsTer?