Canonical Allele Identifier: CA2026361302

Gene: PKP2

Linked Data

• dbSNP Id: rs1956127725

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796595_32796598dup , CM000674.2:g.32796595_32796598dup	GRCh38
NC_000012.11:g.32949529_32949532dup , CM000674.1:g.32949529_32949532dup	GRCh37
NC_000012.10:g.32840796_32840799dup	NCBI36
NG_009000.1:g.105249_105252dup , LRG_398:g.105249_105252dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-300_671-297dup
ENST00000700557.2:n.260-300_260-297dup
ENST00000700559.2:c.2168-3867_2168-3864dup	ENSP00000515065.2:n.2168-3867_2168-3864dup
ENST00000546498.2:n.855-300_855-297dup
ENST00000549461.2:n.660-300_660-297dup
ENST00000700555.1:c.599-300_599-297dup	ENSP00000515062.1:n.599-300_599-297dup
ENST00000700556.1:c.639-300_639-297dup
ENST00000700557.1:c.179-300_179-297dup	ENSP00000515064.1:n.179-300_179-297dup
ENST00000700558.1:n.382-300_382-297dup
ENST00000700559.1:c.1383-3867_1383-3864dup
ENST00000700560.1:n.1383-300_1383-297dup
ENST00000700561.1:n.1509-300_1509-297dup
ENST00000070846.11:c.2300-300_2300-297dup	ENSP00000070846.6:n.2300-300_2300-297dup
ENST00000340811.9:c.2168-300_2168-297dup MANE Select	ENSP00000342800.5:n.2168-300_2168-297dup
ENST00000070846.10:c.2300-300_2300-297dup	ENSP00000070846.6:n.2300-300_2300-297dup
ENST00000340811.8:c.2168-300_2168-297dup	ENSP00000342800.4:n.2168-300_2168-297dup
ENST00000613243.1:c.2300-300_2300-297dup	ENSP00000478295.1:n.2300-300_2300-297dup
NM_001005242.2:c.2168-300_2168-297dup	NP_001005242.2:n.2168-300_2168-297dup
NM_004572.3:c.2300-300_2300-297dup , LRG_398t1:c.2300-300_2300-297dup	NP_004563.2:n.2300-300_2300-297dup
NM_001005242.3:c.2168-300_2168-297dup MANE Select	NP_001005242.2:n.2168-300_2168-297dup
NM_004572.4:c.2300-300_2300-297dup	NP_004563.2:n.2300-300_2300-297dup