Canonical Allele Identifier: CA2695216230

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2982306
• ClinVar RCV Id: RCV003842953

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821351C>T , CM000674.2:g.32821351C>T	GRCh38
NC_000012.11:g.32974285C>T , CM000674.1:g.32974285C>T	GRCh37
NC_000012.10:g.32865552C>T	NCBI36
NG_009000.1:g.80496G>A , LRG_398:g.80496G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.516+5G>A
ENST00000700559.2:c.2013+5G>A	ENSP00000515065.2:n.2013+5G>A
ENST00000700563.2:c.2013+5G>A	ENSP00000515066.2:n.2013+5G>A
ENST00000546498.2:n.700+5G>A
ENST00000549461.2:n.552+5G>A
ENST00000700555.1:c.444+5G>A	ENSP00000515062.1:n.444+5G>A
ENST00000700556.1:c.484+5G>A
ENST00000700558.1:n.227+5G>A
ENST00000700559.1:c.1228+5G>A
ENST00000700560.1:n.1228+5G>A
ENST00000700561.1:n.1354+5G>A
ENST00000700562.1:n.551+5G>A
ENST00000700563.1:c.1967+5G>A
ENST00000700564.1:n.2022G>A
ENST00000070846.11:c.2145+5G>A	ENSP00000070846.6:n.2145+5G>A
ENST00000340811.9:c.2013+5G>A MANE Select	ENSP00000342800.5:n.2013+5G>A
ENST00000070846.10:c.2145+5G>A	ENSP00000070846.6:n.2145+5G>A
ENST00000340811.8:c.2013+5G>A	ENSP00000342800.4:n.2013+5G>A
ENST00000549461.1:n.459+5G>A
ENST00000552612.5:n.439G>A
ENST00000613243.1:c.2145+5G>A	ENSP00000478295.1:n.2145+5G>A
NM_001005242.2:c.2013+5G>A	NP_001005242.2:n.2013+5G>A
NM_004572.3:c.2145+5G>A , LRG_398t1:c.2145+5G>A	NP_004563.2:n.2145+5G>A
NM_001005242.3:c.2013+5G>A MANE Select	NP_001005242.2:n.2013+5G>A
NM_004572.4:c.2145+5G>A	NP_004563.2:n.2145+5G>A