Canonical Allele Identifier: CA2026396387

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821502C= , CM000674.2:g.32821502C=	GRCh38
NC_000012.11:g.32974436C= , CM000674.1:g.32974436C=	GRCh37
NC_000012.10:g.32865703C=	NCBI36
NG_009000.1:g.80345G= , LRG_398:g.80345G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001005242.3:c.1867G= MANE Select	NP_001005242.2:p.Glu623=
ENST00000340811.9:c.1867G= MANE Select	ENSP00000342800.5:p.Glu623=
NM_001005242.2:c.1867G=	NP_001005242.2:p.Glu623=
NM_004572.3:c.1999G= , LRG_398t1:c.1999G=	NP_004563.2:p.Glu667=
NM_004572.4:c.1999G=	NP_004563.2:p.Glu667=
ENST00000070846.10:c.1999G=	ENSP00000070846.6:p.Glu667=
ENST00000070846.11:c.1999G=	ENSP00000070846.6:p.Glu667=
ENST00000340811.8:c.1867G=	ENSP00000342800.4:p.Glu623=
ENST00000546498.1:n.554G=
ENST00000546498.2:n.554G=
ENST00000549461.1:n.313G=
ENST00000549461.2:n.406G=
ENST00000552612.5:n.288G=
ENST00000613243.1:c.1999G=	ENSP00000478295.1:p.Glu667=
ENST00000700555.1:c.298G=	ENSP00000515062.1:p.Glu100=
ENST00000700555.2:n.370G=
ENST00000700556.1:c.338G=
ENST00000700558.1:n.81G=
ENST00000700559.1:c.1082G=
ENST00000700559.2:c.1867G=	ENSP00000515065.2:p.Glu623=
ENST00000700560.1:n.1082G=
ENST00000700561.1:n.1208G=
ENST00000700562.1:n.405G=
ENST00000700563.1:c.1821G=
ENST00000700563.2:c.1867G=	ENSP00000515066.2:p.Glu623=
ENST00000700564.1:n.1871G=