Canonical Allele Identifier: CA2026374280
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841330G= , CM000674.2:g.32841330G= GRCh38
NC_000012.11:g.32994264G= , CM000674.1:g.32994264G= GRCh37
NC_000012.10:g.32885531G= NCBI36
NG_009000.1:g.60517C= , LRG_398:g.60517C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1379-125C= ENSP00000515065.2:n.1379-125C=
ENST00000700563.2:c.1379-125C= ENSP00000515066.2:n.1379-125C=
ENST00000700559.1:c.594-125C=
ENST00000700560.1:n.594-125C=
ENST00000700561.1:n.720-125C=
ENST00000700563.1:c.1333-125C=
ENST00000700564.1:n.1383-125C=
ENST00000700565.1:n.1232-125C=
ENST00000070846.11:c.1511-125C= ENSP00000070846.6:n.1511-125C=
ENST00000340811.9:c.1379-125C= MANE Select ENSP00000342800.5:n.1379-125C=
ENST00000070846.10:c.1511-125C= ENSP00000070846.6:n.1511-125C=
ENST00000340811.8:c.1379-125C= ENSP00000342800.4:n.1379-125C=
ENST00000613243.1:c.1511-125C= ENSP00000478295.1:n.1511-125C=
NM_001005242.2:c.1379-125C= NP_001005242.2:n.1379-125C=
NM_004572.3:c.1511-125C= , LRG_398t1:c.1511-125C= NP_004563.2:n.1511-125C=
NM_001005242.3:c.1379-125C= MANE Select NP_001005242.2:n.1379-125C=
NM_004572.4:c.1511-125C= NP_004563.2:n.1511-125C=