Canonical Allele Identifier: CA2026360418

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796263_32796269delinsGAATGAT , CM000674.2:g.32796263_32796269delinsGAATGAT	GRCh38
NC_000012.11:g.32949197_32949203delinsGAATGAT , CM000674.1:g.32949197_32949203delinsGAATGAT	GRCh37
NC_000012.10:g.32840464_32840470delinsGAATGAT	NCBI36
NG_009000.1:g.105578_105584delinsATCATTC , LRG_398:g.105578_105584delinsATCATTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.700_706delinsATCATTC
ENST00000700557.2:n.289_295delinsATCATTC
ENST00000700559.2:c.2168-3538_2168-3532delinsATCATTC	ENSP00000515065.2:n.2168-3538_2168-3532de...
ENST00000546498.2:n.884_890delinsATCATTC
ENST00000549461.2:n.689_695delinsATCATTC
ENST00000700555.1:c.628_634delinsATCATTC	ENSP00000515062.1:p.Ile210=
ENST00000700556.1:c.668_674delinsATCATTC
ENST00000700557.1:c.208_214delinsATCATTC	ENSP00000515064.1:p.Ile70=
ENST00000700558.1:n.411_417delinsATCATTC
ENST00000700559.1:c.1383-3538_1383-3532delinsATCATTC
ENST00000700560.1:n.1412_1418delinsATCATTC
ENST00000700561.1:n.1538_1544delinsATCATTC
ENST00000070846.11:c.2329_2335delinsATCATTC	ENSP00000070846.6:p.Ile777=
ENST00000340811.9:c.2197_2203delinsATCATTC MANE Select	ENSP00000342800.5:p.Ile733=
ENST00000070846.10:c.2329_2335delinsATCATTC	ENSP00000070846.6:p.Ile777=
ENST00000340811.8:c.2197_2203delinsATCATTC	ENSP00000342800.4:p.Ile733=
ENST00000613243.1:c.2329_2335delinsATCATTC	ENSP00000478295.1:p.Ile777=
NM_001005242.2:c.2197_2203delinsATCATTC	NP_001005242.2:p.Ile733=
NM_004572.3:c.2329_2335delinsATCATTC , LRG_398t1:c.2329_2335delinsATCATTC	NP_004563.2:p.Ile777=
NM_001005242.3:c.2197_2203delinsATCATTC MANE Select	NP_001005242.2:p.Ile733=
NM_004572.4:c.2329_2335delinsATCATTC	NP_004563.2:p.Ile777=