Canonical Allele Identifier: CA6508274

Gene: PKP2

Linked Data

• ClinVar Variation Id: 308502
• ClinVar RCV Id: RCV000276214 ; RCV001618540
• dbSNP Id: rs369140281
• ExAC: 12:32945309 G / GT
• gnomAD v2: 12-32945309-G-GT
• gnomAD v3: 12-32792375-G-GT
• gnomAD v4: 12-32792375-G-GT
• MyVariant Identifiers: chr12:g.32945310dupT (hg19) ; chr12:g.32945309_32945310insT (hg19) ; chr12:g.32792376dupT (hg38) ; chr12:g.32792375_32792376insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792376dup , CM000674.2:g.32792376dup	GRCh38
NC_000012.11:g.32945310dup , CM000674.1:g.32945310dup	GRCh37
NC_000012.10:g.32836577dup	NCBI36
NG_009000.1:g.109471dup , LRG_398:g.109471dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.1065dup
ENST00000700557.2:n.654dup
ENST00000700559.2:c.2372dup	ENSP00000515065.2:p.His791GlnfsTer?
ENST00000546498.2:n.1249dup
ENST00000549461.2:n.1054dup
ENST00000700555.1:c.*48dup	ENSP00000515062.1:n.*48dup
ENST00000700556.1:c.1033dup
ENST00000700557.1:c.*48dup	ENSP00000515064.1:n.*48dup
ENST00000700558.1:n.776dup
ENST00000700559.1:c.1587dup
ENST00000700560.1:n.1928dup
ENST00000070846.11:c.*48dup	ENSP00000070846.6:n.*48dup
ENST00000340811.9:c.*48dup MANE Select	ENSP00000342800.5:n.*48dup
ENST00000070846.10:c.*48dup	ENSP00000070846.6:n.*48dup
ENST00000340811.8:c.*48dup	ENSP00000342800.4:n.*48dup
ENST00000546769.1:n.349dup
NM_001005242.2:c.*48dup	NP_001005242.2:n.*48dup
NM_004572.3:c.*48dup , LRG_398t1:c.*48dup	NP_004563.2:n.*48dup
NM_001005242.3:c.*48dup MANE Select	NP_001005242.2:n.*48dup
NM_004572.4:c.*48dup	NP_004563.2:n.*48dup