Canonical Allele Identifier: CA2026373184

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841051G= , CM000674.2:g.32841051G=	GRCh38
NC_000012.11:g.32993985G= , CM000674.1:g.32993985G=	GRCh37
NC_000012.10:g.32885252G=	NCBI36
NG_009000.1:g.60796C= , LRG_398:g.60796C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1533C=	ENSP00000515065.2:p.Phe511=
ENST00000700563.2:c.1533C=	ENSP00000515066.2:p.Phe511=
ENST00000700556.1:c.4C=
ENST00000700559.1:c.748C=
ENST00000700560.1:n.748C=
ENST00000700561.1:n.874C=
ENST00000700563.1:c.1487C=
ENST00000700564.1:n.1537C=
ENST00000700565.1:n.1386C=
ENST00000070846.11:c.1665C=	ENSP00000070846.6:p.Phe555=
ENST00000340811.9:c.1533C= MANE Select	ENSP00000342800.5:p.Phe511=
ENST00000070846.10:c.1665C=	ENSP00000070846.6:p.Phe555=
ENST00000340811.8:c.1533C=	ENSP00000342800.4:p.Phe511=
ENST00000613243.1:c.1665C=	ENSP00000478295.1:p.Phe555=
NM_001005242.2:c.1533C=	NP_001005242.2:p.Phe511=
NM_004572.3:c.1665C= , LRG_398t1:c.1665C=	NP_004563.2:p.Phe555=
NM_001005242.3:c.1533C= MANE Select	NP_001005242.2:p.Phe511=
NM_004572.4:c.1665C=	NP_004563.2:p.Phe555=