Canonical Allele Identifier: CA2026397110

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822604G= , CM000674.2:g.32822604G=	GRCh38
NC_000012.11:g.32975538G= , CM000674.1:g.32975538G=	GRCh37
NC_000012.10:g.32866805G=	NCBI36
NG_009000.1:g.79243C= , LRG_398:g.79243C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.214C=
ENST00000700559.2:c.1702C=	ENSP00000515065.2:p.His568=
ENST00000700563.2:c.1702C=	ENSP00000515066.2:p.His568=
ENST00000546498.2:n.389C=
ENST00000700555.1:c.142C=	ENSP00000515062.1:p.His48=
ENST00000700556.1:c.173C=
ENST00000700559.1:c.917C=
ENST00000700560.1:n.917C=
ENST00000700561.1:n.1043C=
ENST00000700563.1:c.1656C=
ENST00000700564.1:n.1706C=
ENST00000070846.11:c.1834C=	ENSP00000070846.6:p.His612=
ENST00000340811.9:c.1702C= MANE Select	ENSP00000342800.5:p.His568=
ENST00000070846.10:c.1834C=	ENSP00000070846.6:p.His612=
ENST00000340811.8:c.1702C=	ENSP00000342800.4:p.His568=
ENST00000546498.1:n.389C=
ENST00000552612.5:n.123C=
ENST00000613243.1:c.1834C=	ENSP00000478295.1:p.His612=
NM_001005242.2:c.1702C=	NP_001005242.2:p.His568=
NM_004572.3:c.1834C= , LRG_398t1:c.1834C=	NP_004563.2:p.His612=
NM_001005242.3:c.1702C= MANE Select	NP_001005242.2:p.His568=
NM_004572.4:c.1834C=	NP_004563.2:p.His612=