Canonical Allele Identifier: CA2618223005

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796420-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796421_32796422del , CM000674.2:g.32796421_32796422del	GRCh38
NC_000012.11:g.32949355_32949356del , CM000674.1:g.32949355_32949356del	GRCh37
NC_000012.10:g.32840622_32840623del	NCBI36
NG_009000.1:g.105425_105426del , LRG_398:g.105425_105426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-124_671-123del
ENST00000700557.2:n.260-124_260-123del
ENST00000700559.2:c.2168-3691_2168-3690del	ENSP00000515065.2:n.2168-3691_2168-3690del
ENST00000546498.2:n.855-124_855-123del
ENST00000549461.2:n.660-124_660-123del
ENST00000700555.1:c.599-124_599-123del	ENSP00000515062.1:n.599-124_599-123del
ENST00000700556.1:c.639-124_639-123del
ENST00000700557.1:c.179-124_179-123del	ENSP00000515064.1:n.179-124_179-123del
ENST00000700558.1:n.382-124_382-123del
ENST00000700559.1:c.1383-3691_1383-3690del
ENST00000700560.1:n.1383-124_1383-123del
ENST00000700561.1:n.1509-124_1509-123del
ENST00000070846.11:c.2300-124_2300-123del	ENSP00000070846.6:n.2300-124_2300-123del
ENST00000340811.9:c.2168-124_2168-123del MANE Select	ENSP00000342800.5:n.2168-124_2168-123del
ENST00000070846.10:c.2300-124_2300-123del	ENSP00000070846.6:n.2300-124_2300-123del
ENST00000340811.8:c.2168-124_2168-123del	ENSP00000342800.4:n.2168-124_2168-123del
ENST00000613243.1:c.2300-124_2300-123del	ENSP00000478295.1:n.2300-124_2300-123del
NM_001005242.2:c.2168-124_2168-123del	NP_001005242.2:n.2168-124_2168-123del
NM_004572.3:c.2300-124_2300-123del , LRG_398t1:c.2300-124_2300-123del	NP_004563.2:n.2300-124_2300-123del
NM_001005242.3:c.2168-124_2168-123del MANE Select	NP_001005242.2:n.2168-124_2168-123del
NM_004572.4:c.2300-124_2300-123del	NP_004563.2:n.2300-124_2300-123del