Canonical Allele Identifier: CA2026396393

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821503C= , CM000674.2:g.32821503C=	GRCh38
NC_000012.11:g.32974437C= , CM000674.1:g.32974437C=	GRCh37
NC_000012.10:g.32865704C=	NCBI36
NG_009000.1:g.80344G= , LRG_398:g.80344G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.369G=
ENST00000700559.2:c.1866G=	ENSP00000515065.2:p.Glu622=
ENST00000700563.2:c.1866G=	ENSP00000515066.2:p.Glu622=
ENST00000546498.2:n.553G=
ENST00000549461.2:n.405G=
ENST00000700555.1:c.297G=	ENSP00000515062.1:p.Glu99=
ENST00000700556.1:c.337G=
ENST00000700558.1:n.80G=
ENST00000700559.1:c.1081G=
ENST00000700560.1:n.1081G=
ENST00000700561.1:n.1207G=
ENST00000700562.1:n.404G=
ENST00000700563.1:c.1820G=
ENST00000700564.1:n.1870G=
ENST00000070846.11:c.1998G=	ENSP00000070846.6:p.Glu666=
ENST00000340811.9:c.1866G= MANE Select	ENSP00000342800.5:p.Glu622=
ENST00000070846.10:c.1998G=	ENSP00000070846.6:p.Glu666=
ENST00000340811.8:c.1866G=	ENSP00000342800.4:p.Glu622=
ENST00000546498.1:n.553G=
ENST00000549461.1:n.312G=
ENST00000552612.5:n.287G=
ENST00000613243.1:c.1998G=	ENSP00000478295.1:p.Glu666=
NM_001005242.2:c.1866G=	NP_001005242.2:p.Glu622=
NM_004572.3:c.1998G= , LRG_398t1:c.1998G=	NP_004563.2:p.Glu666=
NM_001005242.3:c.1866G= MANE Select	NP_001005242.2:p.Glu622=
NM_004572.4:c.1998G=	NP_004563.2:p.Glu666=