Canonical Allele Identifier: CA2026361218
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796557_32796558delinsAT , CM000674.2:g.32796557_32796558delinsAT GRCh38
NC_000012.11:g.32949491_32949492delinsAT , CM000674.1:g.32949491_32949492delinsAT GRCh37
NC_000012.10:g.32840758_32840759delinsAT NCBI36
NG_009000.1:g.105289_105290delinsAT , LRG_398:g.105289_105290delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.671-260_671-259delinsAT
ENST00000700557.2:n.260-260_260-259delinsAT
ENST00000700559.2:c.2168-3827_2168-3826delinsAT ENSP00000515065.2:n.2168-3827_2168-3826delinsAT
ENST00000546498.2:n.855-260_855-259delinsAT
ENST00000549461.2:n.660-260_660-259delinsAT
ENST00000700555.1:c.599-260_599-259delinsAT ENSP00000515062.1:n.599-260_599-259delinsAT
ENST00000700556.1:c.639-260_639-259delinsAT
ENST00000700557.1:c.179-260_179-259delinsAT ENSP00000515064.1:n.179-260_179-259delinsAT
ENST00000700558.1:n.382-260_382-259delinsAT
ENST00000700559.1:c.1383-3827_1383-3826delinsAT
ENST00000700560.1:n.1383-260_1383-259delinsAT
ENST00000700561.1:n.1509-260_1509-259delinsAT
ENST00000070846.11:c.2300-260_2300-259delinsAT ENSP00000070846.6:n.2300-260_2300-259delinsAT
ENST00000340811.9:c.2168-260_2168-259delinsAT MANE Select ENSP00000342800.5:n.2168-260_2168-259delinsAT
ENST00000070846.10:c.2300-260_2300-259delinsAT ENSP00000070846.6:n.2300-260_2300-259delinsAT
ENST00000340811.8:c.2168-260_2168-259delinsAT ENSP00000342800.4:n.2168-260_2168-259delinsAT
ENST00000613243.1:c.2300-260_2300-259delinsAT ENSP00000478295.1:n.2300-260_2300-259delinsAT
NM_001005242.2:c.2168-260_2168-259delinsAT NP_001005242.2:n.2168-260_2168-259delinsAT
NM_004572.3:c.2300-260_2300-259delinsAT , LRG_398t1:c.2300-260_2300-259delinsAT NP_004563.2:n.2300-260_2300-259delinsAT
NM_001005242.3:c.2168-260_2168-259delinsAT MANE Select NP_001005242.2:n.2168-260_2168-259delinsAT
NM_004572.4:c.2300-260_2300-259delinsAT NP_004563.2:n.2300-260_2300-259delinsAT