Canonical Allele Identifier: CA2026398556
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32824099G= , CM000674.2:g.32824099G= GRCh38
NC_000012.11:g.32977033G= , CM000674.1:g.32977033G= GRCh37
NC_000012.10:g.32868300G= NCBI36
NG_009000.1:g.77748C= , LRG_398:g.77748C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.132C=
ENST00000700559.2:c.1620C= ENSP00000515065.2:p.Asp540=
ENST00000700563.2:c.1620C= ENSP00000515066.2:p.Asp540=
ENST00000546498.2:n.307C=
ENST00000700555.1:c.60C= ENSP00000515062.1:p.Asp20=
ENST00000700556.1:c.91C=
ENST00000700559.1:c.835C=
ENST00000700560.1:n.835C=
ENST00000700561.1:n.961C=
ENST00000700563.1:c.1574C=
ENST00000700564.1:n.1624C=
ENST00000070846.11:c.1752C= ENSP00000070846.6:p.Asp584=
ENST00000340811.9:c.1620C= MANE Select ENSP00000342800.5:p.Asp540=
ENST00000070846.10:c.1752C= ENSP00000070846.6:p.Asp584=
ENST00000340811.8:c.1620C= ENSP00000342800.4:p.Asp540=
ENST00000546498.1:n.307C=
ENST00000552612.5:n.41C=
ENST00000613243.1:c.1752C= ENSP00000478295.1:p.Asp584=
NM_001005242.2:c.1620C= NP_001005242.2:p.Asp540=
NM_004572.3:c.1752C= , LRG_398t1:c.1752C= NP_004563.2:p.Asp584=
NM_001005242.3:c.1620C= MANE Select NP_001005242.2:p.Asp540=
NM_004572.4:c.1752C= NP_004563.2:p.Asp584=