Canonical Allele Identifier: CA2026396386

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821501T= , CM000674.2:g.32821501T=	GRCh38
NC_000012.11:g.32974435T= , CM000674.1:g.32974435T=	GRCh37
NC_000012.10:g.32865702T=	NCBI36
NG_009000.1:g.80346A= , LRG_398:g.80346A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.371A=
ENST00000700559.2:c.1868A=	ENSP00000515065.2:p.Glu623=
ENST00000700563.2:c.1868A=	ENSP00000515066.2:p.Glu623=
ENST00000546498.2:n.555A=
ENST00000549461.2:n.407A=
ENST00000700555.1:c.299A=	ENSP00000515062.1:p.Glu100=
ENST00000700556.1:c.339A=
ENST00000700558.1:n.82A=
ENST00000700559.1:c.1083A=
ENST00000700560.1:n.1083A=
ENST00000700561.1:n.1209A=
ENST00000700562.1:n.406A=
ENST00000700563.1:c.1822A=
ENST00000700564.1:n.1872A=
ENST00000070846.11:c.2000A=	ENSP00000070846.6:p.Glu667=
ENST00000340811.9:c.1868A= MANE Select	ENSP00000342800.5:p.Glu623=
ENST00000070846.10:c.2000A=	ENSP00000070846.6:p.Glu667=
ENST00000340811.8:c.1868A=	ENSP00000342800.4:p.Glu623=
ENST00000546498.1:n.555A=
ENST00000549461.1:n.314A=
ENST00000552612.5:n.289A=
ENST00000613243.1:c.2000A=	ENSP00000478295.1:p.Glu667=
NM_001005242.2:c.1868A=	NP_001005242.2:p.Glu623=
NM_004572.3:c.2000A= , LRG_398t1:c.2000A=	NP_004563.2:p.Glu667=
NM_001005242.3:c.1868A= MANE Select	NP_001005242.2:p.Glu623=
NM_004572.4:c.2000A=	NP_004563.2:p.Glu667=