Canonical Allele Identifier: CA658797867

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822503_32822521dup , CM000674.2:g.32822503_32822521dup	GRCh38
NC_000012.11:g.32975437_32975455dup , CM000674.1:g.32975437_32975455dup	GRCh37
NC_000012.10:g.32866704_32866722dup	NCBI36
NG_009000.1:g.79326_79344dup , LRG_398:g.79326_79344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.297_315dup
ENST00000700559.2:c.1785_1803dup	ENSP00000515065.2:p.Gly602Ter
ENST00000700563.2:c.1785_1803dup	ENSP00000515066.2:p.Gly602Ter
ENST00000546498.2:n.472_490dup
ENST00000700555.1:c.225_243dup	ENSP00000515062.1:p.Gly82Ter
ENST00000700556.1:c.256_274dup
ENST00000700559.1:c.1000_1018dup
ENST00000700560.1:n.1000_1018dup
ENST00000700561.1:n.1126_1144dup
ENST00000700563.1:c.1739_1757dup
ENST00000700564.1:n.1789_1807dup
ENST00000070846.11:c.1917_1935dup	ENSP00000070846.6:p.Gly646Ter
ENST00000340811.9:c.1785_1803dup MANE Select	ENSP00000342800.5:p.Gly602Ter
ENST00000070846.10:c.1917_1935dup	ENSP00000070846.6:p.Gly646Ter
ENST00000340811.8:c.1785_1803dup	ENSP00000342800.4:p.Gly602Ter
ENST00000546498.1:n.472_490dup
ENST00000552612.5:n.206_224dup
ENST00000613243.1:c.1917_1935dup	ENSP00000478295.1:p.Gly646Ter
NM_001005242.2:c.1785_1803dup	NP_001005242.2:p.Gly602Ter
NM_004572.3:c.1917_1935dup , LRG_398t1:c.1917_1935dup	NP_004563.2:p.Gly646Ter
NM_001005242.3:c.1785_1803dup MANE Select	NP_001005242.2:p.Gly602Ter
NM_004572.4:c.1917_1935dup	NP_004563.2:p.Gly646Ter