Canonical Allele Identifier: CA2026360769
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796318_32796319delinsAC , CM000674.2:g.32796318_32796319delinsAC GRCh38
NC_000012.11:g.32949252_32949253delinsAC , CM000674.1:g.32949252_32949253delinsAC GRCh37
NC_000012.10:g.32840519_32840520delinsAC NCBI36
NG_009000.1:g.105528_105529delinsGT , LRG_398:g.105528_105529delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.671-21_671-20delinsGT
ENST00000700557.2:n.260-21_260-20delinsGT
ENST00000700559.2:c.2168-3588_2168-3587delinsGT ENSP00000515065.2:n.2168-3588_2168-3587delinsGT
ENST00000546498.2:n.855-21_855-20delinsGT
ENST00000549461.2:n.660-21_660-20delinsGT
ENST00000700555.1:c.599-21_599-20delinsGT ENSP00000515062.1:n.599-21_599-20delinsGT
ENST00000700556.1:c.639-21_639-20delinsGT
ENST00000700557.1:c.179-21_179-20delinsGT ENSP00000515064.1:n.179-21_179-20delinsGT
ENST00000700558.1:n.382-21_382-20delinsGT
ENST00000700559.1:c.1383-3588_1383-3587delinsGT
ENST00000700560.1:n.1383-21_1383-20delinsGT
ENST00000700561.1:n.1509-21_1509-20delinsGT
ENST00000070846.11:c.2300-21_2300-20delinsGT ENSP00000070846.6:n.2300-21_2300-20delinsGT
ENST00000340811.9:c.2168-21_2168-20delinsGT MANE Select ENSP00000342800.5:n.2168-21_2168-20delinsGT
ENST00000070846.10:c.2300-21_2300-20delinsGT ENSP00000070846.6:n.2300-21_2300-20delinsGT
ENST00000340811.8:c.2168-21_2168-20delinsGT ENSP00000342800.4:n.2168-21_2168-20delinsGT
ENST00000613243.1:c.2300-21_2300-20delinsGT ENSP00000478295.1:n.2300-21_2300-20delinsGT
NM_001005242.2:c.2168-21_2168-20delinsGT NP_001005242.2:n.2168-21_2168-20delinsGT
NM_004572.3:c.2300-21_2300-20delinsGT , LRG_398t1:c.2300-21_2300-20delinsGT NP_004563.2:n.2300-21_2300-20delinsGT
NM_001005242.3:c.2168-21_2168-20delinsGT MANE Select NP_001005242.2:n.2168-21_2168-20delinsGT
NM_004572.4:c.2300-21_2300-20delinsGT NP_004563.2:n.2300-21_2300-20delinsGT