Canonical Allele Identifier: CA2618226827

Gene: PKP2

Linked Data

• gnomAD v4: 12-32879003-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879004_32879005del , CM000674.2:g.32879004_32879005del	GRCh38
NC_000012.11:g.33031938_33031939del , CM000674.1:g.33031938_33031939del	GRCh37
NC_000012.10:g.32923205_32923206del	NCBI36
NG_009000.1:g.22842_22843del , LRG_398:g.22842_22843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.251_252del	ENSP00000515065.2:p.Pro84ArgfsTer10
ENST00000700563.2:c.251_252del	ENSP00000515066.2:p.Pro84ArgfsTer10
ENST00000700563.1:c.205_206del
ENST00000700564.1:n.255_256del
ENST00000700565.1:n.104_105del
ENST00000070846.11:c.251_252del	ENSP00000070846.6:p.Pro84ArgfsTer10
ENST00000340811.9:c.251_252del MANE Select	ENSP00000342800.5:p.Pro84ArgfsTer10
ENST00000070846.10:c.251_252del	ENSP00000070846.6:p.Pro84ArgfsTer10
ENST00000340811.8:c.251_252del	ENSP00000342800.4:p.Pro84ArgfsTer10
ENST00000613243.1:c.251_252del	ENSP00000478295.1:p.Pro84ArgfsTer10
NM_001005242.2:c.251_252del	NP_001005242.2:p.Pro84ArgfsTer10
NM_004572.3:c.251_252del , LRG_398t1:c.251_252del	NP_004563.2:p.Pro84ArgfsTer10
NM_001005242.3:c.251_252del MANE Select	NP_001005242.2:p.Pro84ArgfsTer10
NM_004572.4:c.251_252del	NP_004563.2:p.Pro84ArgfsTer10