Canonical Allele Identifier: CA2026352291
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878929G= , CM000674.2:g.32878929G= GRCh38
NC_000012.11:g.33031863G= , CM000674.1:g.33031863G= GRCh37
NC_000012.10:g.32923130G= NCBI36
NG_009000.1:g.22918C= , LRG_398:g.22918C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.327C= ENSP00000515065.2:p.Asp109=
ENST00000700563.2:c.327C= ENSP00000515066.2:p.Asp109=
ENST00000700563.1:c.281C=
ENST00000700564.1:n.331C=
ENST00000700565.1:n.180C=
ENST00000070846.11:c.327C= ENSP00000070846.6:p.Asp109=
ENST00000340811.9:c.327C= MANE Select ENSP00000342800.5:p.Asp109=
ENST00000070846.10:c.327C= ENSP00000070846.6:p.Asp109=
ENST00000340811.8:c.327C= ENSP00000342800.4:p.Asp109=
ENST00000613243.1:c.327C= ENSP00000478295.1:p.Asp109=
NM_001005242.2:c.327C= NP_001005242.2:p.Asp109=
NM_004572.3:c.327C= , LRG_398t1:c.327C= NP_004563.2:p.Asp109=
NM_001005242.3:c.327C= MANE Select NP_001005242.2:p.Asp109=
NM_004572.4:c.327C= NP_004563.2:p.Asp109=