Canonical Allele Identifier: CA032941

Gene: PKP2

Linked Data

• dbSNP Id: rs771168503
• ExAC: 12:32974260 A / T
• gnomAD v2: 12-32974260-A-T
• gnomAD v3: 12-32821326-A-T
• gnomAD v4: 12-32821326-A-T
• MyVariant Identifiers: chr12:g.32974260A>T (hg19) ; chr12:g.32821326A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821326A>T , CM000674.2:g.32821326A>T	GRCh38
NC_000012.11:g.32974260A>T , CM000674.1:g.32974260A>T	GRCh37
NC_000012.10:g.32865527A>T	NCBI36
NG_009000.1:g.80521T>A , LRG_398:g.80521T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.516+30T>A
ENST00000700559.2:c.2013+30T>A	ENSP00000515065.2:n.2013+30T>A
ENST00000700563.2:c.2013+30T>A	ENSP00000515066.2:n.2013+30T>A
ENST00000546498.2:n.700+30T>A
ENST00000549461.2:n.552+30T>A
ENST00000700555.1:c.444+30T>A	ENSP00000515062.1:n.444+30T>A
ENST00000700556.1:c.484+30T>A
ENST00000700558.1:n.227+30T>A
ENST00000700559.1:c.1228+30T>A
ENST00000700560.1:n.1228+30T>A
ENST00000700561.1:n.1354+30T>A
ENST00000700562.1:n.551+30T>A
ENST00000700563.1:c.1967+30T>A
ENST00000700564.1:n.2047T>A
ENST00000070846.11:c.2145+30T>A	ENSP00000070846.6:n.2145+30T>A
ENST00000340811.9:c.2013+30T>A MANE Select	ENSP00000342800.5:n.2013+30T>A
ENST00000070846.10:c.2145+30T>A	ENSP00000070846.6:n.2145+30T>A
ENST00000340811.8:c.2013+30T>A	ENSP00000342800.4:n.2013+30T>A
ENST00000549461.1:n.459+30T>A
ENST00000552612.5:n.464T>A
ENST00000613243.1:c.2145+30T>A	ENSP00000478295.1:n.2145+30T>A
NM_001005242.2:c.2013+30T>A	NP_001005242.2:n.2013+30T>A
NM_004572.3:c.2145+30T>A , LRG_398t1:c.2145+30T>A	NP_004563.2:n.2145+30T>A
NM_001005242.3:c.2013+30T>A MANE Select	NP_001005242.2:n.2013+30T>A
NM_004572.4:c.2145+30T>A	NP_004563.2:n.2145+30T>A