Canonical Allele Identifier: CA2573148528

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1454572
• ClinVar RCV Id: RCV001941937
• dbSNP Id: rs2137952811

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878956_32878960dup , CM000674.2:g.32878956_32878960dup	GRCh38
NC_000012.11:g.33031890_33031894dup , CM000674.1:g.33031890_33031894dup	GRCh37
NC_000012.10:g.32923157_32923161dup	NCBI36
NG_009000.1:g.22887_22891dup , LRG_398:g.22887_22891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.296_300dup	ENSP00000515065.2:p.Arg101GlufsTer13
ENST00000700563.2:c.296_300dup	ENSP00000515066.2:p.Arg101GlufsTer13
ENST00000700563.1:c.250_254dup
ENST00000700564.1:n.300_304dup
ENST00000700565.1:n.149_153dup
ENST00000070846.11:c.296_300dup	ENSP00000070846.6:p.Arg101GlufsTer13
ENST00000340811.9:c.296_300dup MANE Select	ENSP00000342800.5:p.Arg101GlufsTer13
ENST00000070846.10:c.296_300dup	ENSP00000070846.6:p.Arg101GlufsTer13
ENST00000340811.8:c.296_300dup	ENSP00000342800.4:p.Arg101GlufsTer13
ENST00000613243.1:c.296_300dup	ENSP00000478295.1:p.Arg101GlufsTer13
NM_001005242.2:c.296_300dup	NP_001005242.2:p.Arg101GlufsTer13
NM_004572.3:c.296_300dup , LRG_398t1:c.296_300dup	NP_004563.2:p.Arg101GlufsTer13
NM_001005242.3:c.296_300dup MANE Select	NP_001005242.2:p.Arg101GlufsTer13
NM_004572.4:c.296_300dup	NP_004563.2:p.Arg101GlufsTer13