Canonical Allele Identifier: CA2838286108

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869012dup , CM000674.2:g.32869012dup	GRCh38
NC_000012.11:g.33021946dup , CM000674.1:g.33021946dup	GRCh37
NC_000012.10:g.32913213dup	NCBI36
NG_009000.1:g.32835dup , LRG_398:g.32835dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1085dup	ENSP00000515065.2:p.Asp363ArgfsTer24
ENST00000700563.2:c.1085dup	ENSP00000515066.2:p.Asp363ArgfsTer24
ENST00000700559.1:c.300dup
ENST00000700560.1:n.300dup
ENST00000700561.1:n.426dup
ENST00000700563.1:c.1039dup
ENST00000700564.1:n.1089dup
ENST00000700565.1:n.938dup
ENST00000070846.11:c.1085dup	ENSP00000070846.6:p.Asp363ArgfsTer24
ENST00000340811.9:c.1085dup MANE Select	ENSP00000342800.5:p.Asp363ArgfsTer24
ENST00000070846.10:c.1085dup	ENSP00000070846.6:p.Asp363ArgfsTer24
ENST00000340811.8:c.1085dup	ENSP00000342800.4:p.Asp363ArgfsTer24
ENST00000613243.1:c.1085dup	ENSP00000478295.1:p.Asp363ArgfsTer24
NM_001005242.2:c.1085dup	NP_001005242.2:p.Asp363ArgfsTer24
NM_004572.3:c.1085dup , LRG_398t1:c.1085dup	NP_004563.2:p.Asp363ArgfsTer24
NM_001005242.3:c.1085dup MANE Select	NP_001005242.2:p.Asp363ArgfsTer24
NM_004572.4:c.1085dup	NP_004563.2:p.Asp363ArgfsTer24