Canonical Allele Identifier: CA2026359969

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796144_32796145delinsGC , CM000674.2:g.32796144_32796145delinsGC	GRCh38
NC_000012.11:g.32949078_32949079delinsGC , CM000674.1:g.32949078_32949079delinsGC	GRCh37
NC_000012.10:g.32840345_32840346delinsGC	NCBI36
NG_009000.1:g.105702_105703delinsGC , LRG_398:g.105702_105703delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.824_825delinsGC
ENST00000700557.2:n.413_414delinsGC
ENST00000700559.2:c.2168-3414_2168-3413delinsGC	ENSP00000515065.2:n.2168-3414_2168-3413delinsGC
ENST00000546498.2:n.1008_1009delinsGC
ENST00000549461.2:n.813_814delinsGC
ENST00000700555.1:c.752_753delinsGC	ENSP00000515062.1:p.Gly251=
ENST00000700556.1:c.792_793delinsGC
ENST00000700557.1:c.332_333delinsGC	ENSP00000515064.1:p.Gly111=
ENST00000700558.1:n.535_536delinsGC
ENST00000700559.1:c.1383-3414_1383-3413delinsGC
ENST00000700560.1:n.1536_1537delinsGC
ENST00000700561.1:n.1662_1663delinsGC
ENST00000070846.11:c.2453_2454delinsGC	ENSP00000070846.6:p.Gly818=
ENST00000340811.9:c.2321_2322delinsGC MANE Select	ENSP00000342800.5:p.Gly774=
ENST00000070846.10:c.2453_2454delinsGC	ENSP00000070846.6:p.Gly818=
ENST00000340811.8:c.2321_2322delinsGC	ENSP00000342800.4:p.Gly774=
ENST00000613243.1:c.2451_2452delinsGC	ENSP00000478295.1:p.Gly817=
NM_001005242.2:c.2321_2322delinsGC	NP_001005242.2:p.Gly774=
NM_004572.3:c.2453_2454delinsGC , LRG_398t1:c.2453_2454delinsGC	NP_004563.2:p.Gly818=
NM_001005242.3:c.2321_2322delinsGC MANE Select	NP_001005242.2:p.Gly774=
NM_004572.4:c.2453_2454delinsGC	NP_004563.2:p.Gly818=