Canonical Allele Identifier: CA2026359737
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796063G= , CM000674.2:g.32796063G= GRCh38
NC_000012.11:g.32948997G= , CM000674.1:g.32948997G= GRCh37
NC_000012.10:g.32840264G= NCBI36
NG_009000.1:g.105784C= , LRG_398:g.105784C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.860+46C=
ENST00000700557.2:n.449+46C=
ENST00000700559.2:c.2168-3332C= ENSP00000515065.2:n.2168-3332C=
ENST00000546498.2:n.1044+46C=
ENST00000549461.2:n.849+46C=
ENST00000700555.1:c.788+46C= ENSP00000515062.1:n.788+46C=
ENST00000700556.1:c.828+46C=
ENST00000700557.1:c.368+46C= ENSP00000515064.1:n.368+46C=
ENST00000700558.1:n.571+46C=
ENST00000700559.1:c.1383-3332C=
ENST00000700560.1:n.1572+46C=
ENST00000700561.1:n.1744C=
ENST00000070846.11:c.2489+46C= ENSP00000070846.6:n.2489+46C=
ENST00000340811.9:c.2357+46C= MANE Select ENSP00000342800.5:n.2357+46C=
ENST00000070846.10:c.2489+46C= ENSP00000070846.6:n.2489+46C=
ENST00000340811.8:c.2357+46C= ENSP00000342800.4:n.2357+46C=
ENST00000613243.1:c.2487+46C= ENSP00000478295.1:n.2487+46C=
NM_001005242.2:c.2357+46C= NP_001005242.2:n.2357+46C=
NM_004572.3:c.2489+46C= , LRG_398t1:c.2489+46C= NP_004563.2:n.2489+46C=
NM_001005242.3:c.2357+46C= MANE Select NP_001005242.2:n.2357+46C=
NM_004572.4:c.2489+46C= NP_004563.2:n.2489+46C=