Canonical Allele Identifier: CA2026373136
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841037C= , CM000674.2:g.32841037C= GRCh38
NC_000012.11:g.32993971C= , CM000674.1:g.32993971C= GRCh37
NC_000012.10:g.32885238C= NCBI36
NG_009000.1:g.60810G= , LRG_398:g.60810G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1547G= ENSP00000515065.2:p.Gly516=
ENST00000700563.2:c.1547G= ENSP00000515066.2:p.Gly516=
ENST00000700556.1:c.18G=
ENST00000700559.1:c.762G=
ENST00000700560.1:n.762G=
ENST00000700561.1:n.888G=
ENST00000700563.1:c.1501G=
ENST00000700564.1:n.1551G=
ENST00000700565.1:n.1400G=
ENST00000070846.11:c.1679G= ENSP00000070846.6:p.Gly560=
ENST00000340811.9:c.1547G= MANE Select ENSP00000342800.5:p.Gly516=
ENST00000070846.10:c.1679G= ENSP00000070846.6:p.Gly560=
ENST00000340811.8:c.1547G= ENSP00000342800.4:p.Gly516=
ENST00000613243.1:c.1679G= ENSP00000478295.1:p.Gly560=
NM_001005242.2:c.1547G= NP_001005242.2:p.Gly516=
NM_004572.3:c.1679G= , LRG_398t1:c.1679G= NP_004563.2:p.Gly560=
NM_001005242.3:c.1547G= MANE Select NP_001005242.2:p.Gly516=
NM_004572.4:c.1679G= NP_004563.2:p.Gly560=