Canonical Allele Identifier: CA2026352259

Gene: PKP2

Linked Data

• dbSNP Id: rs1956960248

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878914_32878915insA , CM000674.2:g.32878914_32878915insA	GRCh38
NC_000012.11:g.33031848_33031849insA , CM000674.1:g.33031848_33031849insA	GRCh37
NC_000012.10:g.32923115_32923116insA	NCBI36
NG_009000.1:g.22932_22933insT , LRG_398:g.22932_22933insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.336+5_336+6insT	ENSP00000515065.2:n.336+5_336+6insT
ENST00000700563.2:c.336+5_336+6insT	ENSP00000515066.2:n.336+5_336+6insT
ENST00000700563.1:c.290+5_290+6insT
ENST00000700564.1:n.340+5_340+6insT
ENST00000700565.1:n.189+5_189+6insT
ENST00000070846.11:c.336+5_336+6insT	ENSP00000070846.6:n.336+5_336+6insT
ENST00000340811.9:c.336+5_336+6insT MANE Select	ENSP00000342800.5:n.336+5_336+6insT
ENST00000070846.10:c.336+5_336+6insT	ENSP00000070846.6:n.336+5_336+6insT
ENST00000340811.8:c.336+5_336+6insT	ENSP00000342800.4:n.336+5_336+6insT
ENST00000613243.1:c.336+5_336+6insT	ENSP00000478295.1:n.336+5_336+6insT
NM_001005242.2:c.336+5_336+6insT	NP_001005242.2:n.336+5_336+6insT
NM_004572.3:c.336+5_336+6insT , LRG_398t1:c.336+5_336+6insT	NP_004563.2:n.336+5_336+6insT
NM_001005242.3:c.336+5_336+6insT MANE Select	NP_001005242.2:n.336+5_336+6insT
NM_004572.4:c.336+5_336+6insT	NP_004563.2:n.336+5_336+6insT