Canonical Allele Identifier: CA2026361247

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796565_32796566delinsAT , CM000674.2:g.32796565_32796566delinsAT	GRCh38
NC_000012.11:g.32949499_32949500delinsAT , CM000674.1:g.32949499_32949500delinsAT	GRCh37
NC_000012.10:g.32840766_32840767delinsAT	NCBI36
NG_009000.1:g.105281_105282delinsAT , LRG_398:g.105281_105282delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-268_671-267delinsAT
ENST00000700557.2:n.260-268_260-267delinsAT
ENST00000700559.2:c.2168-3835_2168-3834delinsAT	ENSP00000515065.2:n.2168-3835_2168-3834delinsAT
ENST00000546498.2:n.855-268_855-267delinsAT
ENST00000549461.2:n.660-268_660-267delinsAT
ENST00000700555.1:c.599-268_599-267delinsAT	ENSP00000515062.1:n.599-268_599-267delinsAT
ENST00000700556.1:c.639-268_639-267delinsAT
ENST00000700557.1:c.179-268_179-267delinsAT	ENSP00000515064.1:n.179-268_179-267delinsAT
ENST00000700558.1:n.382-268_382-267delinsAT
ENST00000700559.1:c.1383-3835_1383-3834delinsAT
ENST00000700560.1:n.1383-268_1383-267delinsAT
ENST00000700561.1:n.1509-268_1509-267delinsAT
ENST00000070846.11:c.2300-268_2300-267delinsAT	ENSP00000070846.6:n.2300-268_2300-267delinsAT
ENST00000340811.9:c.2168-268_2168-267delinsAT MANE Select	ENSP00000342800.5:n.2168-268_2168-267delinsAT
ENST00000070846.10:c.2300-268_2300-267delinsAT	ENSP00000070846.6:n.2300-268_2300-267delinsAT
ENST00000340811.8:c.2168-268_2168-267delinsAT	ENSP00000342800.4:n.2168-268_2168-267delinsAT
ENST00000613243.1:c.2300-268_2300-267delinsAT	ENSP00000478295.1:n.2300-268_2300-267delinsAT
NM_001005242.2:c.2168-268_2168-267delinsAT	NP_001005242.2:n.2168-268_2168-267delinsAT
NM_004572.3:c.2300-268_2300-267delinsAT , LRG_398t1:c.2300-268_2300-267delinsAT	NP_004563.2:n.2300-268_2300-267delinsAT
NM_001005242.3:c.2168-268_2168-267delinsAT MANE Select	NP_001005242.2:n.2168-268_2168-267delinsAT
NM_004572.4:c.2300-268_2300-267delinsAT	NP_004563.2:n.2300-268_2300-267delinsAT