Canonical Allele Identifier: CA2026397293

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32822809_32822813delinsGAACA , CM000674.2:g.32822809_32822813delinsGAACA	GRCh38
NC_000012.11:g.32975743_32975747delinsGAACA , CM000674.1:g.32975743_32975747delinsGAACA	GRCh37
NC_000012.10:g.32867010_32867014delinsGAACA	NCBI36
NG_009000.1:g.79034_79038delinsTGTTC , LRG_398:g.79034_79038delinsTGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.187-182_187-178delinsTGTTC
ENST00000700559.2:c.1675-182_1675-178delinsTGTTC	ENSP00000515065.2:n.1675-182_1675-178delinsTGTTC
ENST00000700563.2:c.1675-182_1675-178delinsTGTTC	ENSP00000515066.2:n.1675-182_1675-178delinsTGTTC
ENST00000546498.2:n.362-182_362-178delinsTGTTC
ENST00000700555.1:c.115-182_115-178delinsTGTTC	ENSP00000515062.1:n.115-182_115-178delinsTGTTC
ENST00000700556.1:c.146-182_146-178delinsTGTTC
ENST00000700559.1:c.890-182_890-178delinsTGTTC
ENST00000700560.1:n.890-182_890-178delinsTGTTC
ENST00000700561.1:n.1016-182_1016-178delinsTGTTC
ENST00000700563.1:c.1629-182_1629-178delinsTGTTC
ENST00000700564.1:n.1679-182_1679-178delinsTGTTC
ENST00000070846.11:c.1807-182_1807-178delinsTGTTC	ENSP00000070846.6:n.1807-182_1807-178delinsTGTTC
ENST00000340811.9:c.1675-182_1675-178delinsTGTTC MANE Select	ENSP00000342800.5:n.1675-182_1675-178delinsTGTTC
ENST00000070846.10:c.1807-182_1807-178delinsTGTTC	ENSP00000070846.6:n.1807-182_1807-178delinsTGTTC
ENST00000340811.8:c.1675-182_1675-178delinsTGTTC	ENSP00000342800.4:n.1675-182_1675-178delinsTGTTC
ENST00000546498.1:n.362-182_362-178delinsTGTTC
ENST00000552612.5:n.96-182_96-178delinsTGTTC
ENST00000613243.1:c.1807-182_1807-178delinsTGTTC	ENSP00000478295.1:n.1807-182_1807-178delinsTGTTC
NM_001005242.2:c.1675-182_1675-178delinsTGTTC	NP_001005242.2:n.1675-182_1675-178delinsTGTTC
NM_004572.3:c.1807-182_1807-178delinsTGTTC , LRG_398t1:c.1807-182_1807-178delinsTGTTC	NP_004563.2:n.1807-182_1807-178delinsTGTTC
NM_001005242.3:c.1675-182_1675-178delinsTGTTC MANE Select	NP_001005242.2:n.1675-182_1675-178delinsTGTTC
NM_004572.4:c.1807-182_1807-178delinsTGTTC	NP_004563.2:n.1807-182_1807-178delinsTGTTC