Canonical Allele Identifier: CA2795090735

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822406_32822407insT , CM000674.2:g.32822406_32822407insT	GRCh38
NC_000012.11:g.32975340_32975341insT , CM000674.1:g.32975340_32975341insT	GRCh37
NC_000012.10:g.32866607_32866608insT	NCBI36
NG_009000.1:g.79440_79441insA , LRG_398:g.79440_79441insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.342+69_342+70insA
ENST00000700559.2:c.1839+60_1839+61insA	ENSP00000515065.2:n.1839+60_1839+61insA
ENST00000700563.2:c.1839+60_1839+61insA	ENSP00000515066.2:n.1839+60_1839+61insA
ENST00000546498.2:n.526+60_526+61insA
ENST00000700555.1:c.270+69_270+70insA	ENSP00000515062.1:n.270+69_270+70insA
ENST00000700556.1:c.310+60_310+61insA
ENST00000700559.1:c.1054+60_1054+61insA
ENST00000700560.1:n.1054+60_1054+61insA
ENST00000700561.1:n.1180+60_1180+61insA
ENST00000700563.1:c.1793+60_1793+61insA
ENST00000700564.1:n.1843+60_1843+61insA
ENST00000070846.11:c.1971+60_1971+61insA	ENSP00000070846.6:n.1971+60_1971+61insA
ENST00000340811.9:c.1839+60_1839+61insA MANE Select	ENSP00000342800.5:n.1839+60_1839+61insA
ENST00000070846.10:c.1971+60_1971+61insA	ENSP00000070846.6:n.1971+60_1971+61insA
ENST00000340811.8:c.1839+60_1839+61insA	ENSP00000342800.4:n.1839+60_1839+61insA
ENST00000546498.1:n.526+60_526+61insA
ENST00000552612.5:n.260+60_260+61insA
ENST00000613243.1:c.1971+60_1971+61insA	ENSP00000478295.1:n.1971+60_1971+61insA
NM_001005242.2:c.1839+60_1839+61insA	NP_001005242.2:n.1839+60_1839+61insA
NM_004572.3:c.1971+60_1971+61insA , LRG_398t1:c.1971+60_1971+61insA	NP_004563.2:n.1971+60_1971+61insA
NM_001005242.3:c.1839+60_1839+61insA MANE Select	NP_001005242.2:n.1839+60_1839+61insA
NM_004572.4:c.1971+60_1971+61insA	NP_004563.2:n.1971+60_1971+61insA