Canonical Allele Identifier: CA658658132

Gene: PKP2

Linked Data

• ClinVar Variation Id: 452249
• ClinVar RCV Id: RCV000522421 ; RCV004003637 ; RCV002431490
• dbSNP Id: rs1555148271
• MyVariant Identifiers: chr12:g.33031933dup (hg19) ; chr12:g.32878999dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878999dup , CM000674.2:g.32878999dup	GRCh38
NC_000012.11:g.33031933dup , CM000674.1:g.33031933dup	GRCh37
NC_000012.10:g.32923200dup	NCBI36
NG_009000.1:g.22848dup , LRG_398:g.22848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.257dup	ENSP00000515065.2:p.Tyr86Ter
ENST00000700563.2:c.257dup	ENSP00000515066.2:p.Tyr86Ter
ENST00000700563.1:c.211dup
ENST00000700564.1:n.261dup
ENST00000700565.1:n.110dup
ENST00000070846.11:c.257dup	ENSP00000070846.6:p.Tyr86Ter
ENST00000340811.9:c.257dup MANE Select	ENSP00000342800.5:p.Tyr86Ter
ENST00000070846.10:c.257dup	ENSP00000070846.6:p.Tyr86Ter
ENST00000340811.8:c.257dup	ENSP00000342800.4:p.Tyr86Ter
ENST00000613243.1:c.257dup	ENSP00000478295.1:p.Tyr86Ter
NM_001005242.2:c.257dup	NP_001005242.2:p.Tyr86Ter
NM_004572.3:c.257dup , LRG_398t1:c.257dup	NP_004563.2:p.Tyr86Ter
NM_001005242.3:c.257dup MANE Select	NP_001005242.2:p.Tyr86Ter
NM_004572.4:c.257dup	NP_004563.2:p.Tyr86Ter