Canonical Allele Identifier: CA2618223019

Gene: PKP2

Linked Data

• gnomAD v4: 12-32796434-GTGCAGTGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796435_32796444del , CM000674.2:g.32796435_32796444del	GRCh38
NC_000012.11:g.32949369_32949378del , CM000674.1:g.32949369_32949378del	GRCh37
NC_000012.10:g.32840636_32840645del	NCBI36
NG_009000.1:g.105403_105412del , LRG_398:g.105403_105412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-146_671-137del
ENST00000700557.2:n.260-146_260-137del
ENST00000700559.2:c.2168-3713_2168-3704del	ENSP00000515065.2:n.2168-3713_2168-3704del
ENST00000546498.2:n.855-146_855-137del
ENST00000549461.2:n.660-146_660-137del
ENST00000700555.1:c.599-146_599-137del	ENSP00000515062.1:n.599-146_599-137del
ENST00000700556.1:c.639-146_639-137del
ENST00000700557.1:c.179-146_179-137del	ENSP00000515064.1:n.179-146_179-137del
ENST00000700558.1:n.382-146_382-137del
ENST00000700559.1:c.1383-3713_1383-3704del
ENST00000700560.1:n.1383-146_1383-137del
ENST00000700561.1:n.1509-146_1509-137del
ENST00000070846.11:c.2300-146_2300-137del	ENSP00000070846.6:n.2300-146_2300-137del
ENST00000340811.9:c.2168-146_2168-137del MANE Select	ENSP00000342800.5:n.2168-146_2168-137del
ENST00000070846.10:c.2300-146_2300-137del	ENSP00000070846.6:n.2300-146_2300-137del
ENST00000340811.8:c.2168-146_2168-137del	ENSP00000342800.4:n.2168-146_2168-137del
ENST00000613243.1:c.2300-146_2300-137del	ENSP00000478295.1:n.2300-146_2300-137del
NM_001005242.2:c.2168-146_2168-137del	NP_001005242.2:n.2168-146_2168-137del
NM_004572.3:c.2300-146_2300-137del , LRG_398t1:c.2300-146_2300-137del	NP_004563.2:n.2300-146_2300-137del
NM_001005242.3:c.2168-146_2168-137del MANE Select	NP_001005242.2:n.2168-146_2168-137del
NM_004572.4:c.2300-146_2300-137del	NP_004563.2:n.2300-146_2300-137del