Canonical Allele Identifier: CA2618226058

Gene: PKP2

Linked Data

• gnomAD v4: 12-32841324-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841325_32841326del , CM000674.2:g.32841325_32841326del	GRCh38
NC_000012.11:g.32994259_32994260del , CM000674.1:g.32994259_32994260del	GRCh37
NC_000012.10:g.32885526_32885527del	NCBI36
NG_009000.1:g.60521_60522del , LRG_398:g.60521_60522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-121_1379-120del	ENSP00000515065.2:n.1379-121_1379-120del
ENST00000700563.2:c.1379-121_1379-120del	ENSP00000515066.2:n.1379-121_1379-120del
ENST00000700559.1:c.594-121_594-120del
ENST00000700560.1:n.594-121_594-120del
ENST00000700561.1:n.720-121_720-120del
ENST00000700563.1:c.1333-121_1333-120del
ENST00000700564.1:n.1383-121_1383-120del
ENST00000700565.1:n.1232-121_1232-120del
ENST00000070846.11:c.1511-121_1511-120del	ENSP00000070846.6:n.1511-121_1511-120del
ENST00000340811.9:c.1379-121_1379-120del MANE Select	ENSP00000342800.5:n.1379-121_1379-120del
ENST00000070846.10:c.1511-121_1511-120del	ENSP00000070846.6:n.1511-121_1511-120del
ENST00000340811.8:c.1379-121_1379-120del	ENSP00000342800.4:n.1379-121_1379-120del
ENST00000613243.1:c.1511-121_1511-120del	ENSP00000478295.1:n.1511-121_1511-120del
NM_001005242.2:c.1379-121_1379-120del	NP_001005242.2:n.1379-121_1379-120del
NM_004572.3:c.1511-121_1511-120del , LRG_398t1:c.1511-121_1511-120del	NP_004563.2:n.1511-121_1511-120del
NM_001005242.3:c.1379-121_1379-120del MANE Select	NP_001005242.2:n.1379-121_1379-120del
NM_004572.4:c.1511-121_1511-120del	NP_004563.2:n.1511-121_1511-120del