Canonical Allele Identifier: CA2026397013

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822550T= , CM000674.2:g.32822550T=	GRCh38
NC_000012.11:g.32975484T= , CM000674.1:g.32975484T=	GRCh37
NC_000012.10:g.32866751T=	NCBI36
NG_009000.1:g.79297A= , LRG_398:g.79297A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.268A=
ENST00000700559.2:c.1756A=	ENSP00000515065.2:p.Ile586=
ENST00000700563.2:c.1756A=	ENSP00000515066.2:p.Ile586=
ENST00000546498.2:n.443A=
ENST00000700555.1:c.196A=	ENSP00000515062.1:p.Ile66=
ENST00000700556.1:c.227A=
ENST00000700559.1:c.971A=
ENST00000700560.1:n.971A=
ENST00000700561.1:n.1097A=
ENST00000700563.1:c.1710A=
ENST00000700564.1:n.1760A=
ENST00000070846.11:c.1888A=	ENSP00000070846.6:p.Ile630=
ENST00000340811.9:c.1756A= MANE Select	ENSP00000342800.5:p.Ile586=
ENST00000070846.10:c.1888A=	ENSP00000070846.6:p.Ile630=
ENST00000340811.8:c.1756A=	ENSP00000342800.4:p.Ile586=
ENST00000546498.1:n.443A=
ENST00000552612.5:n.177A=
ENST00000613243.1:c.1888A=	ENSP00000478295.1:p.Ile630=
NM_001005242.2:c.1756A=	NP_001005242.2:p.Ile586=
NM_004572.3:c.1888A= , LRG_398t1:c.1888A=	NP_004563.2:p.Ile630=
NM_001005242.3:c.1756A= MANE Select	NP_001005242.2:p.Ile586=
NM_004572.4:c.1888A=	NP_004563.2:p.Ile630=