Canonical Allele Identifier: CA2026361457
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796677_32796678delinsGC , CM000674.2:g.32796677_32796678delinsGC GRCh38
NC_000012.11:g.32949611_32949612delinsGC , CM000674.1:g.32949611_32949612delinsGC GRCh37
NC_000012.10:g.32840878_32840879delinsGC NCBI36
NG_009000.1:g.105169_105170delinsGC , LRG_398:g.105169_105170delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.671-380_671-379delinsGC
ENST00000700557.2:n.260-380_260-379delinsGC
ENST00000700559.2:c.2168-3947_2168-3946delinsGC ENSP00000515065.2:n.2168-3947_2168-3946delinsGC
ENST00000546498.2:n.855-380_855-379delinsGC
ENST00000549461.2:n.660-380_660-379delinsGC
ENST00000700555.1:c.599-380_599-379delinsGC ENSP00000515062.1:n.599-380_599-379delinsGC
ENST00000700556.1:c.639-380_639-379delinsGC
ENST00000700557.1:c.179-380_179-379delinsGC ENSP00000515064.1:n.179-380_179-379delinsGC
ENST00000700558.1:n.382-380_382-379delinsGC
ENST00000700559.1:c.1383-3947_1383-3946delinsGC
ENST00000700560.1:n.1383-380_1383-379delinsGC
ENST00000700561.1:n.1509-380_1509-379delinsGC
ENST00000070846.11:c.2300-380_2300-379delinsGC ENSP00000070846.6:n.2300-380_2300-379delinsGC
ENST00000340811.9:c.2168-380_2168-379delinsGC MANE Select ENSP00000342800.5:n.2168-380_2168-379delinsGC
ENST00000070846.10:c.2300-380_2300-379delinsGC ENSP00000070846.6:n.2300-380_2300-379delinsGC
ENST00000340811.8:c.2168-380_2168-379delinsGC ENSP00000342800.4:n.2168-380_2168-379delinsGC
ENST00000613243.1:c.2300-380_2300-379delinsGC ENSP00000478295.1:n.2300-380_2300-379delinsGC
NM_001005242.2:c.2168-380_2168-379delinsGC NP_001005242.2:n.2168-380_2168-379delinsGC
NM_004572.3:c.2300-380_2300-379delinsGC , LRG_398t1:c.2300-380_2300-379delinsGC NP_004563.2:n.2300-380_2300-379delinsGC
NM_001005242.3:c.2168-380_2168-379delinsGC MANE Select NP_001005242.2:n.2168-380_2168-379delinsGC
NM_004572.4:c.2300-380_2300-379delinsGC NP_004563.2:n.2300-380_2300-379delinsGC