Canonical Allele Identifier: CA1139768740

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2131491
• ClinVar RCV Id: RCV003048230
• dbSNP Id: rs1956960817

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878947_32878948del , CM000674.2:g.32878947_32878948del	GRCh38
NC_000012.11:g.33031881_33031882del , CM000674.1:g.33031881_33031882del	GRCh37
NC_000012.10:g.32923148_32923149del	NCBI36
NG_009000.1:g.22899_22900del , LRG_398:g.22899_22900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.308_309del	ENSP00000515065.2:p.Pro103ArgfsTer3
ENST00000700563.2:c.308_309del	ENSP00000515066.2:p.Pro103ArgfsTer3
ENST00000700563.1:c.262_263del
ENST00000700564.1:n.312_313del
ENST00000700565.1:n.161_162del
ENST00000070846.11:c.308_309del	ENSP00000070846.6:p.Pro103ArgfsTer3
ENST00000340811.9:c.308_309del MANE Select	ENSP00000342800.5:p.Pro103ArgfsTer3
ENST00000070846.10:c.308_309del	ENSP00000070846.6:p.Pro103ArgfsTer3
ENST00000340811.8:c.308_309del	ENSP00000342800.4:p.Pro103ArgfsTer3
ENST00000613243.1:c.308_309del	ENSP00000478295.1:p.Pro103ArgfsTer3
NM_001005242.2:c.308_309del	NP_001005242.2:p.Pro103ArgfsTer3
NM_004572.3:c.308_309del , LRG_398t1:c.308_309del	NP_004563.2:p.Pro103ArgfsTer3
NM_001005242.3:c.308_309del MANE Select	NP_001005242.2:p.Pro103ArgfsTer3
NM_004572.4:c.308_309del	NP_004563.2:p.Pro103ArgfsTer3