Canonical Allele Identifier: CA2026350142

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32877906G= , CM000674.2:g.32877906G=	GRCh38
NC_000012.11:g.33030840G= , CM000674.1:g.33030840G=	GRCh37
NC_000012.10:g.32922107G=	NCBI36
NG_009000.1:g.23941C= , LRG_398:g.23941C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.974C=	ENSP00000515065.2:p.Ala325=
ENST00000700563.2:c.974C=	ENSP00000515066.2:p.Ala325=
ENST00000700559.1:c.189C=
ENST00000700560.1:n.189C=
ENST00000700561.1:n.315C=
ENST00000700563.1:c.928C=
ENST00000700564.1:n.978C=
ENST00000700565.1:n.827C=
ENST00000070846.11:c.974C=	ENSP00000070846.6:p.Ala325=
ENST00000340811.9:c.974C= MANE Select	ENSP00000342800.5:p.Ala325=
ENST00000070846.10:c.974C=	ENSP00000070846.6:p.Ala325=
ENST00000340811.8:c.974C=	ENSP00000342800.4:p.Ala325=
ENST00000613243.1:c.974C=	ENSP00000478295.1:p.Ala325=
NM_001005242.2:c.974C=	NP_001005242.2:p.Ala325=
NM_004572.3:c.974C= , LRG_398t1:c.974C=	NP_004563.2:p.Ala325=
NM_001005242.3:c.974C= MANE Select	NP_001005242.2:p.Ala325=
NM_004572.4:c.974C=	NP_004563.2:p.Ala325=