Canonical Allele Identifier: CA032909

Gene: PKP2

Linked Data

• dbSNP Id: rs759733017
• ExAC: 12:32974278 C / T
• gnomAD v2: 12-32974278-C-T
• gnomAD v4: 12-32821344-C-T
• MyVariant Identifiers: chr12:g.32974278C>T (hg19) ; chr12:g.32821344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821344C>T , CM000674.2:g.32821344C>T	GRCh38
NC_000012.11:g.32974278C>T , CM000674.1:g.32974278C>T	GRCh37
NC_000012.10:g.32865545C>T	NCBI36
NG_009000.1:g.80503G>A , LRG_398:g.80503G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.516+12G>A
ENST00000700559.2:c.2013+12G>A	ENSP00000515065.2:n.2013+12G>A
ENST00000700563.2:c.2013+12G>A	ENSP00000515066.2:n.2013+12G>A
ENST00000546498.2:n.700+12G>A
ENST00000549461.2:n.552+12G>A
ENST00000700555.1:c.444+12G>A	ENSP00000515062.1:n.444+12G>A
ENST00000700556.1:c.484+12G>A
ENST00000700558.1:n.227+12G>A
ENST00000700559.1:c.1228+12G>A
ENST00000700560.1:n.1228+12G>A
ENST00000700561.1:n.1354+12G>A
ENST00000700562.1:n.551+12G>A
ENST00000700563.1:c.1967+12G>A
ENST00000700564.1:n.2029G>A
ENST00000070846.11:c.2145+12G>A	ENSP00000070846.6:n.2145+12G>A
ENST00000340811.9:c.2013+12G>A MANE Select	ENSP00000342800.5:n.2013+12G>A
ENST00000070846.10:c.2145+12G>A	ENSP00000070846.6:n.2145+12G>A
ENST00000340811.8:c.2013+12G>A	ENSP00000342800.4:n.2013+12G>A
ENST00000549461.1:n.459+12G>A
ENST00000552612.5:n.446G>A
ENST00000613243.1:c.2145+12G>A	ENSP00000478295.1:n.2145+12G>A
NM_001005242.2:c.2013+12G>A	NP_001005242.2:n.2013+12G>A
NM_004572.3:c.2145+12G>A , LRG_398t1:c.2145+12G>A	NP_004563.2:n.2145+12G>A
NM_001005242.3:c.2013+12G>A MANE Select	NP_001005242.2:n.2013+12G>A
NM_004572.4:c.2145+12G>A	NP_004563.2:n.2145+12G>A