Canonical Allele Identifier: CA2573148527

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1358209
• ClinVar RCV Id: RCV001864022
• dbSNP Id: rs2137952495

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878927dup , CM000674.2:g.32878927dup	GRCh38
NC_000012.11:g.33031861dup , CM000674.1:g.33031861dup	GRCh37
NC_000012.10:g.32923128dup	NCBI36
NG_009000.1:g.22920dup , LRG_398:g.22920dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.329dup	ENSP00000515065.2:p.Met110IlefsTer11
ENST00000700563.2:c.329dup	ENSP00000515066.2:p.Met110IlefsTer11
ENST00000700563.1:c.283dup
ENST00000700564.1:n.333dup
ENST00000700565.1:n.182dup
ENST00000070846.11:c.329dup	ENSP00000070846.6:p.Met110IlefsTer11
ENST00000340811.9:c.329dup MANE Select	ENSP00000342800.5:p.Met110IlefsTer11
ENST00000070846.10:c.329dup	ENSP00000070846.6:p.Met110IlefsTer11
ENST00000340811.8:c.329dup	ENSP00000342800.4:p.Met110IlefsTer11
ENST00000613243.1:c.329dup	ENSP00000478295.1:p.Met110IlefsTer11
NM_001005242.2:c.329dup	NP_001005242.2:p.Met110IlefsTer11
NM_004572.3:c.329dup , LRG_398t1:c.329dup	NP_004563.2:p.Met110IlefsTer11
NM_001005242.3:c.329dup MANE Select	NP_001005242.2:p.Met110IlefsTer11
NM_004572.4:c.329dup	NP_004563.2:p.Met110IlefsTer11