Canonical Allele Identifier: CA011282

Gene: PKP2

Linked Data

• ClinVar Variation Id: 202019
• ClinVar RCV Id: RCV000183790 ; RCV000699079
• dbSNP Id: rs794729127
• MyVariant Identifiers: chr12:g.32993986del (hg19) ; chr12:g.32841052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841053del , CM000674.2:g.32841053del	GRCh38
NC_000012.11:g.32993987del , CM000674.1:g.32993987del	GRCh37
NC_000012.10:g.32885254del	NCBI36
NG_009000.1:g.60795del , LRG_398:g.60795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1532del	ENSP00000515065.2:p.Phe511SerfsTer8
ENST00000700563.2:c.1532del	ENSP00000515066.2:p.Phe511SerfsTer8
ENST00000700556.1:c.3del
ENST00000700559.1:c.747del
ENST00000700560.1:n.747del
ENST00000700561.1:n.873del
ENST00000700563.1:c.1486del
ENST00000700564.1:n.1536del
ENST00000700565.1:n.1385del
ENST00000070846.11:c.1664del	ENSP00000070846.6:p.Phe555SerfsTer8
ENST00000340811.9:c.1532del MANE Select	ENSP00000342800.5:p.Phe511SerfsTer8
ENST00000070846.10:c.1664del	ENSP00000070846.6:p.Phe555SerfsTer8
ENST00000340811.8:c.1532del	ENSP00000342800.4:p.Phe511SerfsTer8
ENST00000613243.1:c.1664del	ENSP00000478295.1:p.Phe555SerfsTer8
NM_001005242.2:c.1532del	NP_001005242.2:p.Phe511SerfsTer8
NM_004572.3:c.1664del , LRG_398t1:c.1664del	NP_004563.2:p.Phe555SerfsTer8
NM_001005242.3:c.1532del MANE Select	NP_001005242.2:p.Phe511SerfsTer8
NM_004572.4:c.1664del	NP_004563.2:p.Phe555SerfsTer8