Canonical Allele Identifier: CA2026359793
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32796091C= , CM000674.2:g.32796091C= GRCh38
NC_000012.11:g.32949025C= , CM000674.1:g.32949025C= GRCh37
NC_000012.10:g.32840292C= NCBI36
NG_009000.1:g.105756G= , LRG_398:g.105756G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.860+18G=
ENST00000700557.2:n.449+18G=
ENST00000700559.2:c.2168-3360G= ENSP00000515065.2:n.2168-3360G=
ENST00000546498.2:n.1044+18G=
ENST00000549461.2:n.849+18G=
ENST00000700555.1:c.788+18G= ENSP00000515062.1:n.788+18G=
ENST00000700556.1:c.828+18G=
ENST00000700557.1:c.368+18G= ENSP00000515064.1:n.368+18G=
ENST00000700558.1:n.571+18G=
ENST00000700559.1:c.1383-3360G=
ENST00000700560.1:n.1572+18G=
ENST00000700561.1:n.1716G=
ENST00000070846.11:c.2489+18G= ENSP00000070846.6:n.2489+18G=
ENST00000340811.9:c.2357+18G= MANE Select ENSP00000342800.5:n.2357+18G=
ENST00000070846.10:c.2489+18G= ENSP00000070846.6:n.2489+18G=
ENST00000340811.8:c.2357+18G= ENSP00000342800.4:n.2357+18G=
ENST00000613243.1:c.2487+18G= ENSP00000478295.1:n.2487+18G=
NM_001005242.2:c.2357+18G= NP_001005242.2:n.2357+18G=
NM_004572.3:c.2489+18G= , LRG_398t1:c.2489+18G= NP_004563.2:n.2489+18G=
NM_001005242.3:c.2357+18G= MANE Select NP_001005242.2:n.2357+18G=
NM_004572.4:c.2489+18G= NP_004563.2:n.2489+18G=