Canonical Allele Identifier: CA2618222920

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796298-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796299_32796300del , CM000674.2:g.32796299_32796300del	GRCh38
NC_000012.11:g.32949233_32949234del , CM000674.1:g.32949233_32949234del	GRCh37
NC_000012.10:g.32840500_32840501del	NCBI36
NG_009000.1:g.105547_105548del , LRG_398:g.105547_105548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-2_671-1del
ENST00000700557.2:n.260-2_260-1del
ENST00000700559.2:c.2168-3569_2168-3568del	ENSP00000515065.2:n.2168-3569_2168-3568del
ENST00000546498.2:n.855-2_855-1del
ENST00000549461.2:n.660-2_660-1del
ENST00000700555.1:c.599-2_599-1del	ENSP00000515062.1:n.599-2_599-1del
ENST00000700556.1:c.639-2_639-1del
ENST00000700557.1:c.179-2_179-1del	ENSP00000515064.1:n.179-2_179-1del
ENST00000700558.1:n.382-2_382-1del
ENST00000700559.1:c.1383-3569_1383-3568del
ENST00000700560.1:n.1383-2_1383-1del
ENST00000700561.1:n.1509-2_1509-1del
ENST00000070846.11:c.2300-2_2300-1del	ENSP00000070846.6:n.2300-2_2300-1del
ENST00000340811.9:c.2168-2_2168-1del MANE Select	ENSP00000342800.5:n.2168-2_2168-1del
ENST00000070846.10:c.2300-2_2300-1del	ENSP00000070846.6:n.2300-2_2300-1del
ENST00000340811.8:c.2168-2_2168-1del	ENSP00000342800.4:n.2168-2_2168-1del
ENST00000613243.1:c.2300-2_2300-1del	ENSP00000478295.1:n.2300-2_2300-1del
NM_001005242.2:c.2168-2_2168-1del	NP_001005242.2:n.2168-2_2168-1del
NM_004572.3:c.2300-2_2300-1del , LRG_398t1:c.2300-2_2300-1del	NP_004563.2:n.2300-2_2300-1del
NM_001005242.3:c.2168-2_2168-1del MANE Select	NP_001005242.2:n.2168-2_2168-1del
NM_004572.4:c.2300-2_2300-1del	NP_004563.2:n.2300-2_2300-1del