Canonical Allele Identifier: CA2026352586

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32879015_32879016delinsTG , CM000674.2:g.32879015_32879016delinsTG	GRCh38
NC_000012.11:g.33031949_33031950delinsTG , CM000674.1:g.33031949_33031950delinsTG	GRCh37
NC_000012.10:g.32923216_32923217delinsTG	NCBI36
NG_009000.1:g.22831_22832delinsCA , LRG_398:g.22831_22832delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.240_241delinsCA	ENSP00000515065.2:p.Thr80=
ENST00000700563.2:c.240_241delinsCA	ENSP00000515066.2:p.Thr80=
ENST00000700563.1:c.194_195delinsCA
ENST00000700564.1:n.244_245delinsCA
ENST00000700565.1:n.93_94delinsCA
ENST00000070846.11:c.240_241delinsCA	ENSP00000070846.6:p.Thr80=
ENST00000340811.9:c.240_241delinsCA MANE Select	ENSP00000342800.5:p.Thr80=
ENST00000070846.10:c.240_241delinsCA	ENSP00000070846.6:p.Thr80=
ENST00000340811.8:c.240_241delinsCA	ENSP00000342800.4:p.Thr80=
ENST00000613243.1:c.240_241delinsCA	ENSP00000478295.1:p.Thr80=
NM_001005242.2:c.240_241delinsCA	NP_001005242.2:p.Thr80=
NM_004572.3:c.240_241delinsCA , LRG_398t1:c.240_241delinsCA	NP_004563.2:p.Thr80=
NM_001005242.3:c.240_241delinsCA MANE Select	NP_001005242.2:p.Thr80=
NM_004572.4:c.240_241delinsCA	NP_004563.2:p.Thr80=