Canonical Allele Identifier: CA2026374739
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32802661_32802665delinsCTTAT , CM000674.2:g.32802661_32802665delinsCTTAT GRCh38
NC_000012.11:g.32955595_32955599delinsCTTAT , CM000674.1:g.32955595_32955599delinsCTTAT GRCh37
NC_000012.10:g.32846862_32846866delinsCTTAT NCBI36
NG_009000.1:g.99182_99186delinsATAAG , LRG_398:g.99182_99186delinsATAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.517-109_517-105delinsATAAG
ENST00000700557.2:n.106-109_106-105delinsATAAG
ENST00000700559.2:c.2014-109_2014-105delinsATAAG ENSP00000515065.2:n.2014-109_2014-105delinsATAAG
ENST00000546498.2:n.701-109_701-105delinsATAAG
ENST00000549461.2:n.553-109_553-105delinsATAAG
ENST00000700555.1:c.445-109_445-105delinsATAAG ENSP00000515062.1:n.445-109_445-105delinsATAAG
ENST00000700556.1:c.485-109_485-105delinsATAAG
ENST00000700557.1:c.25-109_25-105delinsATAAG ENSP00000515064.1:n.25-109_25-105delinsATAAG
ENST00000700558.1:n.228-109_228-105delinsATAAG
ENST00000700559.1:c.1229-109_1229-105delinsATAAG
ENST00000700560.1:n.1229-109_1229-105delinsATAAG
ENST00000700561.1:n.1355-109_1355-105delinsATAAG
ENST00000070846.11:c.2146-109_2146-105delinsATAAG ENSP00000070846.6:n.2146-109_2146-105delinsATAAG
ENST00000340811.9:c.2014-109_2014-105delinsATAAG MANE Select ENSP00000342800.5:n.2014-109_2014-105delinsATAAG
ENST00000070846.10:c.2146-109_2146-105delinsATAAG ENSP00000070846.6:n.2146-109_2146-105delinsATAAG
ENST00000340811.8:c.2014-109_2014-105delinsATAAG ENSP00000342800.4:n.2014-109_2014-105delinsATAAG
ENST00000549461.1:n.460-109_460-105delinsATAAG
ENST00000613243.1:c.2146-109_2146-105delinsATAAG ENSP00000478295.1:n.2146-109_2146-105delinsATAAG
NM_001005242.2:c.2014-109_2014-105delinsATAAG NP_001005242.2:n.2014-109_2014-105delinsATAAG
NM_004572.3:c.2146-109_2146-105delinsATAAG , LRG_398t1:c.2146-109_2146-105delinsATAAG NP_004563.2:n.2146-109_2146-105delinsATAAG
NM_001005242.3:c.2014-109_2014-105delinsATAAG MANE Select NP_001005242.2:n.2014-109_2014-105delinsATAAG
NM_004572.4:c.2146-109_2146-105delinsATAAG NP_004563.2:n.2146-109_2146-105delinsATAAG