Canonical Allele Identifier: CA2026352473
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878980C= , CM000674.2:g.32878980C= GRCh38
NC_000012.11:g.33031914C= , CM000674.1:g.33031914C= GRCh37
NC_000012.10:g.32923181C= NCBI36
NG_009000.1:g.22867G= , LRG_398:g.22867G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.276G= ENSP00000515065.2:p.Leu92=
ENST00000700563.2:c.276G= ENSP00000515066.2:p.Leu92=
ENST00000700563.1:c.230G=
ENST00000700564.1:n.280G=
ENST00000700565.1:n.129G=
ENST00000070846.11:c.276G= ENSP00000070846.6:p.Leu92=
ENST00000340811.9:c.276G= MANE Select ENSP00000342800.5:p.Leu92=
ENST00000070846.10:c.276G= ENSP00000070846.6:p.Leu92=
ENST00000340811.8:c.276G= ENSP00000342800.4:p.Leu92=
ENST00000613243.1:c.276G= ENSP00000478295.1:p.Leu92=
NM_001005242.2:c.276G= NP_001005242.2:p.Leu92=
NM_004572.3:c.276G= , LRG_398t1:c.276G= NP_004563.2:p.Leu92=
NM_001005242.3:c.276G= MANE Select NP_001005242.2:p.Leu92=
NM_004572.4:c.276G= NP_004563.2:p.Leu92=