Canonical Allele Identifier: CA2726018266

Gene: PKP2

Linked Data

• dbSNP Id: rs2137860867

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850494_32850512del , CM000674.2:g.32850494_32850512del	GRCh38
NC_000012.11:g.33003428_33003446del , CM000674.1:g.33003428_33003446del	GRCh37
NC_000012.10:g.32894695_32894713del	NCBI36
NG_009000.1:g.51336_51354del , LRG_398:g.51336_51354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+255_1378+273del	ENSP00000515065.2:n.1378+255_1378+273del
ENST00000700563.2:c.1378+255_1378+273del	ENSP00000515066.2:n.1378+255_1378+273del
ENST00000700559.1:c.593+255_593+273del
ENST00000700560.1:n.593+255_593+273del
ENST00000700561.1:n.719+255_719+273del
ENST00000700563.1:c.1332+255_1332+273del
ENST00000700564.1:n.1382+255_1382+273del
ENST00000700565.1:n.1231+255_1231+273del
ENST00000070846.11:c.1378+255_1378+273del	ENSP00000070846.6:n.1378+255_1378+273del
ENST00000340811.9:c.1378+255_1378+273del MANE Select	ENSP00000342800.5:n.1378+255_1378+273del
ENST00000070846.10:c.1378+255_1378+273del	ENSP00000070846.6:n.1378+255_1378+273del
ENST00000340811.8:c.1378+255_1378+273del	ENSP00000342800.4:n.1378+255_1378+273del
ENST00000613243.1:c.1378+255_1378+273del	ENSP00000478295.1:n.1378+255_1378+273del
NM_001005242.2:c.1378+255_1378+273del	NP_001005242.2:n.1378+255_1378+273del
NM_004572.3:c.1378+255_1378+273del , LRG_398t1:c.1378+255_1378+273del	NP_004563.2:n.1378+255_1378+273del
NM_001005242.3:c.1378+255_1378+273del MANE Select	NP_001005242.2:n.1378+255_1378+273del
NM_004572.4:c.1378+255_1378+273del	NP_004563.2:n.1378+255_1378+273del