Canonical Allele Identifier: CA2026396061
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32821348A= , CM000674.2:g.32821348A= GRCh38
NC_000012.11:g.32974282A= , CM000674.1:g.32974282A= GRCh37
NC_000012.10:g.32865549A= NCBI36
NG_009000.1:g.80499T= , LRG_398:g.80499T=

Transcript Alleles

HGVS Amino-acid change
ENST00000700555.2:n.516+8T=
ENST00000700559.2:c.2013+8T= ENSP00000515065.2:n.2013+8T=
ENST00000700563.2:c.2013+8T= ENSP00000515066.2:n.2013+8T=
ENST00000546498.2:n.700+8T=
ENST00000549461.2:n.552+8T=
ENST00000700555.1:c.444+8T= ENSP00000515062.1:n.444+8T=
ENST00000700556.1:c.484+8T=
ENST00000700558.1:n.227+8T=
ENST00000700559.1:c.1228+8T=
ENST00000700560.1:n.1228+8T=
ENST00000700561.1:n.1354+8T=
ENST00000700562.1:n.551+8T=
ENST00000700563.1:c.1967+8T=
ENST00000700564.1:n.2025T=
ENST00000070846.11:c.2145+8T= ENSP00000070846.6:n.2145+8T=
ENST00000340811.9:c.2013+8T= MANE Select ENSP00000342800.5:n.2013+8T=
ENST00000070846.10:c.2145+8T= ENSP00000070846.6:n.2145+8T=
ENST00000340811.8:c.2013+8T= ENSP00000342800.4:n.2013+8T=
ENST00000549461.1:n.459+8T=
ENST00000552612.5:n.442T=
ENST00000613243.1:c.2145+8T= ENSP00000478295.1:n.2145+8T=
NM_001005242.2:c.2013+8T= NP_001005242.2:n.2013+8T=
NM_004572.3:c.2145+8T= , LRG_398t1:c.2145+8T= NP_004563.2:n.2145+8T=
NM_001005242.3:c.2013+8T= MANE Select NP_001005242.2:n.2013+8T=
NM_004572.4:c.2145+8T= NP_004563.2:n.2145+8T=