Canonical Allele Identifier: CA2026396394
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32821504T= , CM000674.2:g.32821504T= GRCh38
NC_000012.11:g.32974438T= , CM000674.1:g.32974438T= GRCh37
NC_000012.10:g.32865705T= NCBI36
NG_009000.1:g.80343A= , LRG_398:g.80343A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.368A=
ENST00000700559.2:c.1865A= ENSP00000515065.2:p.Glu622=
ENST00000700563.2:c.1865A= ENSP00000515066.2:p.Glu622=
ENST00000546498.2:n.552A=
ENST00000549461.2:n.404A=
ENST00000700555.1:c.296A= ENSP00000515062.1:p.Glu99=
ENST00000700556.1:c.336A=
ENST00000700558.1:n.79A=
ENST00000700559.1:c.1080A=
ENST00000700560.1:n.1080A=
ENST00000700561.1:n.1206A=
ENST00000700562.1:n.403A=
ENST00000700563.1:c.1819A=
ENST00000700564.1:n.1869A=
ENST00000070846.11:c.1997A= ENSP00000070846.6:p.Glu666=
ENST00000340811.9:c.1865A= MANE Select ENSP00000342800.5:p.Glu622=
ENST00000070846.10:c.1997A= ENSP00000070846.6:p.Glu666=
ENST00000340811.8:c.1865A= ENSP00000342800.4:p.Glu622=
ENST00000546498.1:n.552A=
ENST00000549461.1:n.311A=
ENST00000552612.5:n.286A=
ENST00000613243.1:c.1997A= ENSP00000478295.1:p.Glu666=
NM_001005242.2:c.1865A= NP_001005242.2:p.Glu622=
NM_004572.3:c.1997A= , LRG_398t1:c.1997A= NP_004563.2:p.Glu666=
NM_001005242.3:c.1865A= MANE Select NP_001005242.2:p.Glu622=
NM_004572.4:c.1997A= NP_004563.2:p.Glu666=