Canonical Allele Identifier: CA2026396871
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32822416C= , CM000674.2:g.32822416C= GRCh38
NC_000012.11:g.32975350C= , CM000674.1:g.32975350C= GRCh37
NC_000012.10:g.32866617C= NCBI36
NG_009000.1:g.79431G= , LRG_398:g.79431G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.342+60G=
ENST00000700559.2:c.1839+51G= ENSP00000515065.2:n.1839+51G=
ENST00000700563.2:c.1839+51G= ENSP00000515066.2:n.1839+51G=
ENST00000546498.2:n.526+51G=
ENST00000700555.1:c.270+60G= ENSP00000515062.1:n.270+60G=
ENST00000700556.1:c.310+51G=
ENST00000700559.1:c.1054+51G=
ENST00000700560.1:n.1054+51G=
ENST00000700561.1:n.1180+51G=
ENST00000700563.1:c.1793+51G=
ENST00000700564.1:n.1843+51G=
ENST00000070846.11:c.1971+51G= ENSP00000070846.6:n.1971+51G=
ENST00000340811.9:c.1839+51G= MANE Select ENSP00000342800.5:n.1839+51G=
ENST00000070846.10:c.1971+51G= ENSP00000070846.6:n.1971+51G=
ENST00000340811.8:c.1839+51G= ENSP00000342800.4:n.1839+51G=
ENST00000546498.1:n.526+51G=
ENST00000552612.5:n.260+51G=
ENST00000613243.1:c.1971+51G= ENSP00000478295.1:n.1971+51G=
NM_001005242.2:c.1839+51G= NP_001005242.2:n.1839+51G=
NM_004572.3:c.1971+51G= , LRG_398t1:c.1971+51G= NP_004563.2:n.1971+51G=
NM_001005242.3:c.1839+51G= MANE Select NP_001005242.2:n.1839+51G=
NM_004572.4:c.1971+51G= NP_004563.2:n.1971+51G=