Canonical Allele Identifier: CA2026352354

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878946_32878948delinsCAG , CM000674.2:g.32878946_32878948delinsCAG	GRCh38
NC_000012.11:g.33031880_33031882delinsCAG , CM000674.1:g.33031880_33031882delinsCAG	GRCh37
NC_000012.10:g.32923147_32923149delinsCAG	NCBI36
NG_009000.1:g.22899_22901delinsCTG , LRG_398:g.22899_22901delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.308_310delinsCTG	ENSP00000515065.2:p.Pro103=
ENST00000700563.2:c.308_310delinsCTG	ENSP00000515066.2:p.Pro103=
ENST00000700563.1:c.262_264delinsCTG
ENST00000700564.1:n.312_314delinsCTG
ENST00000700565.1:n.161_163delinsCTG
ENST00000070846.11:c.308_310delinsCTG	ENSP00000070846.6:p.Pro103=
ENST00000340811.9:c.308_310delinsCTG MANE Select	ENSP00000342800.5:p.Pro103=
ENST00000070846.10:c.308_310delinsCTG	ENSP00000070846.6:p.Pro103=
ENST00000340811.8:c.308_310delinsCTG	ENSP00000342800.4:p.Pro103=
ENST00000613243.1:c.308_310delinsCTG	ENSP00000478295.1:p.Pro103=
NM_001005242.2:c.308_310delinsCTG	NP_001005242.2:p.Pro103=
NM_004572.3:c.308_310delinsCTG , LRG_398t1:c.308_310delinsCTG	NP_004563.2:p.Pro103=
NM_001005242.3:c.308_310delinsCTG MANE Select	NP_001005242.2:p.Pro103=
NM_004572.4:c.308_310delinsCTG	NP_004563.2:p.Pro103=