Canonical Allele Identifier: CA2026350048

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1329272
• ClinVar RCV Id: RCV001799315
• dbSNP Id: rs1956945634

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32877897_32877927del , CM000674.2:g.32877897_32877927del	GRCh38
NC_000012.11:g.33030831_33030861del , CM000674.1:g.33030831_33030861del	GRCh37
NC_000012.10:g.32922098_32922128del	NCBI36
NG_009000.1:g.23921_23951del , LRG_398:g.23921_23951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.954_984del	ENSP00000515065.2:p.His318GlnfsTer24
ENST00000700563.2:c.954_984del	ENSP00000515066.2:p.His318GlnfsTer24
ENST00000700559.1:c.169_199del
ENST00000700560.1:n.169_199del
ENST00000700561.1:n.295_325del
ENST00000700563.1:c.908_938del
ENST00000700564.1:n.958_988del
ENST00000700565.1:n.807_837del
ENST00000070846.11:c.954_984del	ENSP00000070846.6:p.His318GlnfsTer24
ENST00000340811.9:c.954_984del MANE Select	ENSP00000342800.5:p.His318GlnfsTer24
ENST00000070846.10:c.954_984del	ENSP00000070846.6:p.His318GlnfsTer24
ENST00000340811.8:c.954_984del	ENSP00000342800.4:p.His318GlnfsTer24
ENST00000613243.1:c.954_984del	ENSP00000478295.1:p.His318GlnfsTer24
NM_001005242.2:c.954_984del	NP_001005242.2:p.His318GlnfsTer24
NM_004572.3:c.954_984del , LRG_398t1:c.954_984del	NP_004563.2:p.His318GlnfsTer24
NM_001005242.3:c.954_984del MANE Select	NP_001005242.2:p.His318GlnfsTer24
NM_004572.4:c.954_984del	NP_004563.2:p.His318GlnfsTer24