Canonical Allele Identifier: CA2697559159

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32896584_32896587dup , CM000674.2:g.32896584_32896587dup	GRCh38
NC_000012.11:g.33049518_33049521dup , CM000674.1:g.33049518_33049521dup	GRCh37
NC_000012.10:g.32940785_32940788dup	NCBI36
NG_009000.1:g.5263_5266dup , LRG_398:g.5263_5266dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.148_151dup MANE Select	NP_001005242.2:p.Val51AspfsTer?
ENST00000340811.9:c.148_151dup MANE Select	ENSP00000342800.5:p.Val51AspfsTer?
NM_001005242.2:c.148_151dup	NP_001005242.2:p.Val51AspfsTer?
NM_004572.3:c.148_151dup , LRG_398t1:c.148_151dup	NP_004563.2:p.Val51AspfsTer?
NM_004572.4:c.148_151dup	NP_004563.2:p.Val51AspfsTer?
ENST00000070846.10:c.148_151dup	ENSP00000070846.6:p.Val51AspfsTer?
ENST00000070846.11:c.148_151dup	ENSP00000070846.6:p.Val51AspfsTer?
ENST00000340811.8:c.148_151dup	ENSP00000342800.4:p.Val51AspfsTer?
ENST00000546741.2:c.18_21dup
ENST00000546741.3:c.148_151dup	ENSP00000481383.2:p.Val51AspfsTer?
ENST00000613243.1:c.148_151dup	ENSP00000478295.1:p.Val51AspfsTer?
ENST00000700559.2:c.148_151dup	ENSP00000515065.2:p.Val51AspfsTer?
ENST00000700563.1:c.102_105dup
ENST00000700563.2:c.148_151dup	ENSP00000515066.2:p.Val51AspfsTer?
ENST00000700564.1:n.152_155dup