Canonical Allele Identifier: CA012177

Gene: PKP2

Linked Data

• ClinVar Variation Id: 180048
• ClinVar RCV Id: RCV000156851 ; RCV002515037
• dbSNP Id: rs727505312
• COSMIC: COSM4853343
• MyVariant Identifiers: chr12:g.32945601C>T (hg19) ; chr12:g.32792667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792667C>T , CM000674.2:g.32792667C>T	GRCh38
NC_000012.11:g.32945601C>T , CM000674.1:g.32945601C>T	GRCh37
NC_000012.10:g.32836868C>T	NCBI36
NG_009000.1:g.109180G>A , LRG_398:g.109180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.925G>A
ENST00000700557.2:n.514G>A
ENST00000700559.2:c.2232G>A	ENSP00000515065.2:p.Arg744=
ENST00000546498.2:n.1109G>A
ENST00000549461.2:n.914G>A
ENST00000700555.1:c.853G>A	ENSP00000515062.1:p.Glu285Lys
ENST00000700556.1:c.893G>A
ENST00000700557.1:c.433G>A	ENSP00000515064.1:p.Glu145Lys
ENST00000700558.1:n.636G>A
ENST00000700559.1:c.1447G>A
ENST00000700560.1:n.1637G>A
ENST00000070846.11:c.2554G>A	ENSP00000070846.6:p.Glu852Lys
ENST00000340811.9:c.2422G>A MANE Select	ENSP00000342800.5:p.Glu808Lys
ENST00000070846.10:c.2554G>A	ENSP00000070846.6:p.Glu852Lys
ENST00000340811.8:c.2422G>A	ENSP00000342800.4:p.Glu808Lys
ENST00000546769.1:n.209G>A
ENST00000613243.1:c.2552G>A	ENSP00000478295.1:n.2552G>A
NM_001005242.2:c.2422G>A	NP_001005242.2:p.Glu808Lys
NM_004572.3:c.2554G>A , LRG_398t1:c.2554G>A	NP_004563.2:p.Glu852Lys
NM_001005242.3:c.2422G>A MANE Select	NP_001005242.2:p.Glu808Lys
NM_004572.4:c.2554G>A	NP_004563.2:p.Glu852Lys