Canonical Allele Identifier: CA1139662559

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796187del , CM000674.2:g.32796187del	GRCh38
NC_000012.11:g.32949121del , CM000674.1:g.32949121del	GRCh37
NC_000012.10:g.32840388del	NCBI36
NG_009000.1:g.105663del , LRG_398:g.105663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.785del
ENST00000700557.2:n.374del
ENST00000700559.2:c.2168-3453del	ENSP00000515065.2:n.2168-3453del
ENST00000546498.2:n.969del
ENST00000549461.2:n.774del
ENST00000700555.1:c.713del	ENSP00000515062.1:p.Asn238ThrfsTer10
ENST00000700556.1:c.753del
ENST00000700557.1:c.293del	ENSP00000515064.1:p.Asn98ThrfsTer10
ENST00000700558.1:n.496del
ENST00000700559.1:c.1383-3453del
ENST00000700560.1:n.1497del
ENST00000700561.1:n.1623del
ENST00000070846.11:c.2414del	ENSP00000070846.6:p.Asn805ThrfsTer10
ENST00000340811.9:c.2282del MANE Select	ENSP00000342800.5:p.Asn761ThrfsTer10
ENST00000070846.10:c.2414del	ENSP00000070846.6:p.Asn805ThrfsTer10
ENST00000340811.8:c.2282del	ENSP00000342800.4:p.Asn761ThrfsTer10
ENST00000613243.1:c.2414del	ENSP00000478295.1:p.Asn805ThrfsTer10
NM_001005242.2:c.2282del	NP_001005242.2:p.Asn761ThrfsTer10
NM_004572.3:c.2414del , LRG_398t1:c.2414del	NP_004563.2:p.Asn805ThrfsTer10
NM_001005242.3:c.2282del MANE Select	NP_001005242.2:p.Asn761ThrfsTer10
NM_004572.4:c.2414del	NP_004563.2:p.Asn805ThrfsTer10