Canonical Allele Identifier: CA919057715

Gene: PKP2

Linked Data

• dbSNP Id: rs1565590156

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850759_32850762del , CM000674.2:g.32850759_32850762del	GRCh38
NC_000012.11:g.33003693_33003696del , CM000674.1:g.33003693_33003696del	GRCh37
NC_000012.10:g.32894960_32894963del	NCBI36
NG_009000.1:g.51085_51088del , LRG_398:g.51085_51088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+4_1378+7del	ENSP00000515065.2:n.1378+4_1378+7del
ENST00000700563.2:c.1378+4_1378+7del	ENSP00000515066.2:n.1378+4_1378+7del
ENST00000700559.1:c.593+4_593+7del
ENST00000700560.1:n.593+4_593+7del
ENST00000700561.1:n.719+4_719+7del
ENST00000700563.1:c.1332+4_1332+7del
ENST00000700564.1:n.1382+4_1382+7del
ENST00000700565.1:n.1231+4_1231+7del
ENST00000070846.11:c.1378+4_1378+7del	ENSP00000070846.6:n.1378+4_1378+7del
ENST00000340811.9:c.1378+4_1378+7del MANE Select	ENSP00000342800.5:n.1378+4_1378+7del
ENST00000070846.10:c.1378+4_1378+7del	ENSP00000070846.6:n.1378+4_1378+7del
ENST00000340811.8:c.1378+4_1378+7del	ENSP00000342800.4:n.1378+4_1378+7del
ENST00000613243.1:c.1378+4_1378+7del	ENSP00000478295.1:n.1378+4_1378+7del
NM_001005242.2:c.1378+4_1378+7del	NP_001005242.2:n.1378+4_1378+7del
NM_004572.3:c.1378+4_1378+7del , LRG_398t1:c.1378+4_1378+7del	NP_004563.2:n.1378+4_1378+7del
NM_001005242.3:c.1378+4_1378+7del MANE Select	NP_001005242.2:n.1378+4_1378+7del
NM_004572.4:c.1378+4_1378+7del	NP_004563.2:n.1378+4_1378+7del