Canonical Allele Identifier: CA2026389103

Gene: PKP2

Linked Data

• dbSNP Id: rs1956686472

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850564_32850570del , CM000674.2:g.32850564_32850570del	GRCh38
NC_000012.11:g.33003498_33003504del , CM000674.1:g.33003498_33003504del	GRCh37
NC_000012.10:g.32894765_32894771del	NCBI36
NG_009000.1:g.51277_51283del , LRG_398:g.51277_51283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+196_1378+202del	ENSP00000515065.2:n.1378+196_1378+202del
ENST00000700563.2:c.1378+196_1378+202del	ENSP00000515066.2:n.1378+196_1378+202del
ENST00000700559.1:c.593+196_593+202del
ENST00000700560.1:n.593+196_593+202del
ENST00000700561.1:n.719+196_719+202del
ENST00000700563.1:c.1332+196_1332+202del
ENST00000700564.1:n.1382+196_1382+202del
ENST00000700565.1:n.1231+196_1231+202del
ENST00000070846.11:c.1378+196_1378+202del	ENSP00000070846.6:n.1378+196_1378+202del
ENST00000340811.9:c.1378+196_1378+202del MANE Select	ENSP00000342800.5:n.1378+196_1378+202del
ENST00000070846.10:c.1378+196_1378+202del	ENSP00000070846.6:n.1378+196_1378+202del
ENST00000340811.8:c.1378+196_1378+202del	ENSP00000342800.4:n.1378+196_1378+202del
ENST00000613243.1:c.1378+196_1378+202del	ENSP00000478295.1:n.1378+196_1378+202del
NM_001005242.2:c.1378+196_1378+202del	NP_001005242.2:n.1378+196_1378+202del
NM_004572.3:c.1378+196_1378+202del , LRG_398t1:c.1378+196_1378+202del	NP_004563.2:n.1378+196_1378+202del
NM_001005242.3:c.1378+196_1378+202del MANE Select	NP_001005242.2:n.1378+196_1378+202del
NM_004572.4:c.1378+196_1378+202del	NP_004563.2:n.1378+196_1378+202del