Canonical Allele Identifier: CA2695216183

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850770del , CM000674.2:g.32850770del	GRCh38
NC_000012.11:g.33003704del , CM000674.1:g.33003704del	GRCh37
NC_000012.10:g.32894971del	NCBI36
NG_009000.1:g.51078del , LRG_398:g.51078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1375del	ENSP00000515065.2:p.Thr459GlnfsTer17
ENST00000700563.2:c.1375del	ENSP00000515066.2:p.Thr459GlnfsTer17
ENST00000700559.1:c.590del
ENST00000700560.1:n.590del
ENST00000700561.1:n.716del
ENST00000700563.1:c.1329del
ENST00000700564.1:n.1379del
ENST00000700565.1:n.1228del
ENST00000070846.11:c.1375del	ENSP00000070846.6:p.Thr459GlnfsTer7
ENST00000340811.9:c.1375del MANE Select	ENSP00000342800.5:p.Thr459GlnfsTer17
ENST00000070846.10:c.1375del	ENSP00000070846.6:p.Thr459GlnfsTer7
ENST00000340811.8:c.1375del	ENSP00000342800.4:p.Thr459GlnfsTer17
ENST00000613243.1:c.1375del	ENSP00000478295.1:p.Thr459GlnfsTer7
NM_001005242.2:c.1375del	NP_001005242.2:p.Thr459GlnfsTer17
NM_004572.3:c.1375del , LRG_398t1:c.1375del	NP_004563.2:p.Thr459GlnfsTer7
NM_001005242.3:c.1375del MANE Select	NP_001005242.2:p.Thr459GlnfsTer17
NM_004572.4:c.1375del	NP_004563.2:p.Thr459GlnfsTer7