Canonical Allele Identifier: CA012127

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792697C>T , CM000674.2:g.32792697C>T	GRCh38
NC_000012.11:g.32945631C>T , CM000674.1:g.32945631C>T	GRCh37
NC_000012.10:g.32836898C>T	NCBI36
NG_009000.1:g.109150G>A , LRG_398:g.109150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.895G>A
ENST00000700557.2:n.484G>A
ENST00000700559.2:c.2202G>A	ENSP00000515065.2:p.Pro734=
ENST00000546498.2:n.1079G>A
ENST00000549461.2:n.884G>A
ENST00000700555.1:c.823G>A	ENSP00000515062.1:p.Val275Ile
ENST00000700556.1:c.863G>A
ENST00000700557.1:c.403G>A	ENSP00000515064.1:p.Val135Ile
ENST00000700558.1:n.606G>A
ENST00000700559.1:c.1417G>A
ENST00000700560.1:n.1607G>A
ENST00000070846.11:c.2524G>A	ENSP00000070846.6:p.Val842Ile
ENST00000340811.9:c.2392G>A MANE Select	ENSP00000342800.5:p.Val798Ile
ENST00000070846.10:c.2524G>A	ENSP00000070846.6:p.Val842Ile
ENST00000340811.8:c.2392G>A	ENSP00000342800.4:p.Val798Ile
ENST00000546769.1:n.179G>A
ENST00000613243.1:c.2522G>A	ENSP00000478295.1:n.2522G>A
NM_001005242.2:c.2392G>A	NP_001005242.2:p.Val798Ile
NM_004572.3:c.2524G>A , LRG_398t1:c.2524G>A	NP_004563.2:p.Val842Ile
NM_001005242.3:c.2392G>A MANE Select	NP_001005242.2:p.Val798Ile
NM_004572.4:c.2524G>A	NP_004563.2:p.Val842Ile