Canonical Allele Identifier: CA658797865

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32877929del , CM000674.2:g.32877929del	GRCh38
NC_000012.11:g.33030863del , CM000674.1:g.33030863del	GRCh37
NC_000012.10:g.32922130del	NCBI36
NG_009000.1:g.23918del , LRG_398:g.23918del

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.951del MANE Select	NP_001005242.2:p.His318ThrfsTer2
ENST00000340811.9:c.951del MANE Select	ENSP00000342800.5:p.His318ThrfsTer2
NM_001005242.2:c.951del	NP_001005242.2:p.His318ThrfsTer2
NM_004572.3:c.951del , LRG_398t1:c.951del	NP_004563.2:p.His318ThrfsTer2
NM_004572.4:c.951del	NP_004563.2:p.His318ThrfsTer2
ENST00000070846.10:c.951del	ENSP00000070846.6:p.His318ThrfsTer2
ENST00000070846.11:c.951del	ENSP00000070846.6:p.His318ThrfsTer2
ENST00000340811.8:c.951del	ENSP00000342800.4:p.His318ThrfsTer2
ENST00000613243.1:c.951del	ENSP00000478295.1:p.His318ThrfsTer2
ENST00000700559.1:c.166del
ENST00000700559.2:c.951del	ENSP00000515065.2:p.His318ThrfsTer2
ENST00000700560.1:n.166del
ENST00000700561.1:n.292del
ENST00000700563.1:c.905del
ENST00000700563.2:c.951del	ENSP00000515066.2:p.His318ThrfsTer2
ENST00000700564.1:n.955del
ENST00000700565.1:n.804del