Canonical Allele Identifier: CA2026373386

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841102C= , CM000674.2:g.32841102C=	GRCh38
NC_000012.11:g.32994036C= , CM000674.1:g.32994036C=	GRCh37
NC_000012.10:g.32885303C=	NCBI36
NG_009000.1:g.60745G= , LRG_398:g.60745G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1482G= MANE Select	NP_001005242.2:p.Trp494=
ENST00000340811.9:c.1482G= MANE Select	ENSP00000342800.5:p.Trp494=
NM_001005242.2:c.1482G=	NP_001005242.2:p.Trp494=
NM_004572.3:c.1614G= , LRG_398t1:c.1614G=	NP_004563.2:p.Trp538=
NM_004572.4:c.1614G=	NP_004563.2:p.Trp538=
ENST00000070846.10:c.1614G=	ENSP00000070846.6:p.Trp538=
ENST00000070846.11:c.1614G=	ENSP00000070846.6:p.Trp538=
ENST00000340811.8:c.1482G=	ENSP00000342800.4:p.Trp494=
ENST00000613243.1:c.1614G=	ENSP00000478295.1:p.Trp538=
ENST00000700559.1:c.697G=
ENST00000700559.2:c.1482G=	ENSP00000515065.2:p.Trp494=
ENST00000700560.1:n.697G=
ENST00000700561.1:n.823G=
ENST00000700563.1:c.1436G=
ENST00000700563.2:c.1482G=	ENSP00000515066.2:p.Trp494=
ENST00000700564.1:n.1486G=
ENST00000700565.1:n.1335G=