Canonical Allele Identifier: CA2026373272

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841072_32841073delinsAC , CM000674.2:g.32841072_32841073delinsAC	GRCh38
NC_000012.11:g.32994006_32994007delinsAC , CM000674.1:g.32994006_32994007delinsAC	GRCh37
NC_000012.10:g.32885273_32885274delinsAC	NCBI36
NG_009000.1:g.60774_60775delinsGT , LRG_398:g.60774_60775delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1511_1512delinsGT	ENSP00000515065.2:p.Gly504=
ENST00000700563.2:c.1511_1512delinsGT	ENSP00000515066.2:p.Gly504=
ENST00000700559.1:c.726_727delinsGT
ENST00000700560.1:n.726_727delinsGT
ENST00000700561.1:n.852_853delinsGT
ENST00000700563.1:c.1465_1466delinsGT
ENST00000700564.1:n.1515_1516delinsGT
ENST00000700565.1:n.1364_1365delinsGT
ENST00000070846.11:c.1643_1644delinsGT	ENSP00000070846.6:p.Gly548=
ENST00000340811.9:c.1511_1512delinsGT MANE Select	ENSP00000342800.5:p.Gly504=
ENST00000070846.10:c.1643_1644delinsGT	ENSP00000070846.6:p.Gly548=
ENST00000340811.8:c.1511_1512delinsGT	ENSP00000342800.4:p.Gly504=
ENST00000613243.1:c.1643_1644delinsGT	ENSP00000478295.1:p.Gly548=
NM_001005242.2:c.1511_1512delinsGT	NP_001005242.2:p.Gly504=
NM_004572.3:c.1643_1644delinsGT , LRG_398t1:c.1643_1644delinsGT	NP_004563.2:p.Gly548=
NM_001005242.3:c.1511_1512delinsGT MANE Select	NP_001005242.2:p.Gly504=
NM_004572.4:c.1643_1644delinsGT	NP_004563.2:p.Gly548=