Canonical Allele Identifier: CA011453

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45047
• ClinVar RCV Id: RCV000038187 ; RCV000242219 ; RCV000640015 ; RCV001008767 ; RCV001171163 ; RCV002265578
• dbSNP Id: rs397517010
• ExAC: 12:32975550 C / CA
• gnomAD v2: 12-32975550-C-CA
• gnomAD v4: 12-32822616-C-CA
• MyVariant Identifiers: chr12:g.32975551dupA (hg19) ; chr12:g.32975550_32975551insA (hg19) ; chr12:g.32822617dupA (hg38) ; chr12:g.32822616_32822617insA (hg38)
• PubMed: PMID:23671136 ; PMID:25616645 ; PMID:25820315

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822617dup , CM000674.2:g.32822617dup	GRCh38
NC_000012.11:g.32975551dup , CM000674.1:g.32975551dup	GRCh37
NC_000012.10:g.32866818dup	NCBI36
NG_009000.1:g.79230dup , LRG_398:g.79230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.201dup
ENST00000700559.2:c.1689dup	ENSP00000515065.2:p.Val564CysfsTer6
ENST00000700563.2:c.1689dup	ENSP00000515066.2:p.Val564CysfsTer6
ENST00000546498.2:n.376dup
ENST00000700555.1:c.129dup	ENSP00000515062.1:p.Val44CysfsTer6
ENST00000700556.1:c.160dup
ENST00000700559.1:c.904dup
ENST00000700560.1:n.904dup
ENST00000700561.1:n.1030dup
ENST00000700563.1:c.1643dup
ENST00000700564.1:n.1693dup
ENST00000070846.11:c.1821dup	ENSP00000070846.6:p.Val608CysfsTer6
ENST00000340811.9:c.1689dup MANE Select	ENSP00000342800.5:p.Val564CysfsTer6
ENST00000070846.10:c.1821dup	ENSP00000070846.6:p.Val608CysfsTer6
ENST00000340811.8:c.1689dup	ENSP00000342800.4:p.Val564CysfsTer6
ENST00000546498.1:n.376dup
ENST00000552612.5:n.110dup
ENST00000613243.1:c.1821dup	ENSP00000478295.1:p.Val608CysfsTer6
NM_001005242.2:c.1689dup	NP_001005242.2:p.Val564CysfsTer6
NM_004572.3:c.1821dup , LRG_398t1:c.1821dup	NP_004563.2:p.Val608CysfsTer6
NM_001005242.3:c.1689dup MANE Select	NP_001005242.2:p.Val564CysfsTer6
NM_004572.4:c.1821dup	NP_004563.2:p.Val608CysfsTer6