Canonical Allele Identifier: CA2026342981

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2996297
• ClinVar RCV Id: RCV003856448
• dbSNP Id: rs1956875875

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869083dup , CM000674.2:g.32869083dup	GRCh38
NC_000012.11:g.33022017dup , CM000674.1:g.33022017dup	GRCh37
NC_000012.10:g.32913284dup	NCBI36
NG_009000.1:g.32765dup , LRG_398:g.32765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1035-20dup	ENSP00000515065.2:n.1035-20dup
ENST00000700563.2:c.1035-20dup	ENSP00000515066.2:n.1035-20dup
ENST00000700559.1:c.250-20dup
ENST00000700560.1:n.250-20dup
ENST00000700561.1:n.376-20dup
ENST00000700563.1:c.989-20dup
ENST00000700564.1:n.1039-20dup
ENST00000700565.1:n.888-20dup
ENST00000070846.11:c.1035-20dup	ENSP00000070846.6:n.1035-20dup
ENST00000340811.9:c.1035-20dup MANE Select	ENSP00000342800.5:n.1035-20dup
ENST00000070846.10:c.1035-20dup	ENSP00000070846.6:n.1035-20dup
ENST00000340811.8:c.1035-20dup	ENSP00000342800.4:n.1035-20dup
ENST00000613243.1:c.1035-20dup	ENSP00000478295.1:n.1035-20dup
NM_001005242.2:c.1035-20dup	NP_001005242.2:n.1035-20dup
NM_004572.3:c.1035-20dup , LRG_398t1:c.1035-20dup	NP_004563.2:n.1035-20dup
NM_001005242.3:c.1035-20dup MANE Select	NP_001005242.2:n.1035-20dup
NM_004572.4:c.1035-20dup	NP_004563.2:n.1035-20dup