Canonical Allele Identifier: CA2539000316

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796512_32796513insCT , CM000674.2:g.32796512_32796513insCT	GRCh38
NC_000012.11:g.32949446_32949447insCT , CM000674.1:g.32949446_32949447insCT	GRCh37
NC_000012.10:g.32840713_32840714insCT	NCBI36
NG_009000.1:g.105334_105335insAG , LRG_398:g.105334_105335insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-215_671-214insAG
ENST00000700557.2:n.260-215_260-214insAG
ENST00000700559.2:c.2168-3782_2168-3781insAG	ENSP00000515065.2:n.2168-3782_2168-3781insAG
ENST00000546498.2:n.855-215_855-214insAG
ENST00000549461.2:n.660-215_660-214insAG
ENST00000700555.1:c.599-215_599-214insAG	ENSP00000515062.1:n.599-215_599-214insAG
ENST00000700556.1:c.639-215_639-214insAG
ENST00000700557.1:c.179-215_179-214insAG	ENSP00000515064.1:n.179-215_179-214insAG
ENST00000700558.1:n.382-215_382-214insAG
ENST00000700559.1:c.1383-3782_1383-3781insAG
ENST00000700560.1:n.1383-215_1383-214insAG
ENST00000700561.1:n.1509-215_1509-214insAG
ENST00000070846.11:c.2300-215_2300-214insAG	ENSP00000070846.6:n.2300-215_2300-214insAG
ENST00000340811.9:c.2168-215_2168-214insAG MANE Select	ENSP00000342800.5:n.2168-215_2168-214insAG
ENST00000070846.10:c.2300-215_2300-214insAG	ENSP00000070846.6:n.2300-215_2300-214insAG
ENST00000340811.8:c.2168-215_2168-214insAG	ENSP00000342800.4:n.2168-215_2168-214insAG
ENST00000613243.1:c.2300-215_2300-214insAG	ENSP00000478295.1:n.2300-215_2300-214insAG
NM_001005242.2:c.2168-215_2168-214insAG	NP_001005242.2:n.2168-215_2168-214insAG
NM_004572.3:c.2300-215_2300-214insAG , LRG_398t1:c.2300-215_2300-214insAG	NP_004563.2:n.2300-215_2300-214insAG
NM_001005242.3:c.2168-215_2168-214insAG MANE Select	NP_001005242.2:n.2168-215_2168-214insAG
NM_004572.4:c.2300-215_2300-214insAG	NP_004563.2:n.2300-215_2300-214insAG