Canonical Allele Identifier: CA2026397134

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822626C= , CM000674.2:g.32822626C=	GRCh38
NC_000012.11:g.32975560C= , CM000674.1:g.32975560C=	GRCh37
NC_000012.10:g.32866827C=	NCBI36
NG_009000.1:g.79221G= , LRG_398:g.79221G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.192G=
ENST00000700559.2:c.1680G=	ENSP00000515065.2:p.Thr560=
ENST00000700563.2:c.1680G=	ENSP00000515066.2:p.Thr560=
ENST00000546498.2:n.367G=
ENST00000700555.1:c.120G=	ENSP00000515062.1:p.Thr40=
ENST00000700556.1:c.151G=
ENST00000700559.1:c.895G=
ENST00000700560.1:n.895G=
ENST00000700561.1:n.1021G=
ENST00000700563.1:c.1634G=
ENST00000700564.1:n.1684G=
ENST00000070846.11:c.1812G=	ENSP00000070846.6:p.Thr604=
ENST00000340811.9:c.1680G= MANE Select	ENSP00000342800.5:p.Thr560=
ENST00000070846.10:c.1812G=	ENSP00000070846.6:p.Thr604=
ENST00000340811.8:c.1680G=	ENSP00000342800.4:p.Thr560=
ENST00000546498.1:n.367G=
ENST00000552612.5:n.101G=
ENST00000613243.1:c.1812G=	ENSP00000478295.1:p.Thr604=
NM_001005242.2:c.1680G=	NP_001005242.2:p.Thr560=
NM_004572.3:c.1812G= , LRG_398t1:c.1812G=	NP_004563.2:p.Thr604=
NM_001005242.3:c.1680G= MANE Select	NP_001005242.2:p.Thr560=
NM_004572.4:c.1812G=	NP_004563.2:p.Thr604=