Canonical Allele Identifier: CA2618226092

Gene: PKP2

Linked Data

• gnomAD v4: 12-32841350-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841355_32841357del , CM000674.2:g.32841355_32841357del	GRCh38
NC_000012.11:g.32994289_32994291del , CM000674.1:g.32994289_32994291del	GRCh37
NC_000012.10:g.32885556_32885558del	NCBI36
NG_009000.1:g.60494_60496del , LRG_398:g.60494_60496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-148_1379-146del	ENSP00000515065.2:n.1379-148_1379-146del
ENST00000700563.2:c.1379-148_1379-146del	ENSP00000515066.2:n.1379-148_1379-146del
ENST00000700559.1:c.594-148_594-146del
ENST00000700560.1:n.594-148_594-146del
ENST00000700561.1:n.720-148_720-146del
ENST00000700563.1:c.1333-148_1333-146del
ENST00000700564.1:n.1383-148_1383-146del
ENST00000700565.1:n.1232-148_1232-146del
ENST00000070846.11:c.1511-148_1511-146del	ENSP00000070846.6:n.1511-148_1511-146del
ENST00000340811.9:c.1379-148_1379-146del MANE Select	ENSP00000342800.5:n.1379-148_1379-146del
ENST00000070846.10:c.1511-148_1511-146del	ENSP00000070846.6:n.1511-148_1511-146del
ENST00000340811.8:c.1379-148_1379-146del	ENSP00000342800.4:n.1379-148_1379-146del
ENST00000613243.1:c.1511-148_1511-146del	ENSP00000478295.1:n.1511-148_1511-146del
NM_001005242.2:c.1379-148_1379-146del	NP_001005242.2:n.1379-148_1379-146del
NM_004572.3:c.1511-148_1511-146del , LRG_398t1:c.1511-148_1511-146del	NP_004563.2:n.1511-148_1511-146del
NM_001005242.3:c.1379-148_1379-146del MANE Select	NP_001005242.2:n.1379-148_1379-146del
NM_004572.4:c.1511-148_1511-146del	NP_004563.2:n.1511-148_1511-146del