Canonical Allele Identifier: CA2026395960
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32821242T= , CM000674.2:g.32821242T= GRCh38
NC_000012.11:g.32974176T= , CM000674.1:g.32974176T= GRCh37
NC_000012.10:g.32865443T= NCBI36
NG_009000.1:g.80605A= , LRG_398:g.80605A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.516+114A=
ENST00000700559.2:c.2013+114A= ENSP00000515065.2:n.2013+114A=
ENST00000700563.2:c.2014-96A= ENSP00000515066.2:n.2014-96A=
ENST00000546498.2:n.700+114A=
ENST00000549461.2:n.552+114A=
ENST00000700555.1:c.444+114A= ENSP00000515062.1:n.444+114A=
ENST00000700556.1:c.484+114A=
ENST00000700558.1:n.227+114A=
ENST00000700559.1:c.1228+114A=
ENST00000700560.1:n.1228+114A=
ENST00000700561.1:n.1354+114A=
ENST00000700562.1:n.552-96A=
ENST00000700563.1:c.1968-96A=
ENST00000700564.1:n.2131A=
ENST00000070846.11:c.2145+114A= ENSP00000070846.6:n.2145+114A=
ENST00000340811.9:c.2013+114A= MANE Select ENSP00000342800.5:n.2013+114A=
ENST00000070846.10:c.2145+114A= ENSP00000070846.6:n.2145+114A=
ENST00000340811.8:c.2013+114A= ENSP00000342800.4:n.2013+114A=
ENST00000549461.1:n.459+114A=
ENST00000552612.5:n.548A=
ENST00000613243.1:c.2145+114A= ENSP00000478295.1:n.2145+114A=
NM_001005242.2:c.2013+114A= NP_001005242.2:n.2013+114A=
NM_004572.3:c.2145+114A= , LRG_398t1:c.2145+114A= NP_004563.2:n.2145+114A=
NM_001005242.3:c.2013+114A= MANE Select NP_001005242.2:n.2013+114A=
NM_004572.4:c.2145+114A= NP_004563.2:n.2145+114A=