Canonical Allele Identifier: CA2026397124
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32822617A= , CM000674.2:g.32822617A= GRCh38
NC_000012.11:g.32975551A= , CM000674.1:g.32975551A= GRCh37
NC_000012.10:g.32866818A= NCBI36
NG_009000.1:g.79230T= , LRG_398:g.79230T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.201T=
ENST00000700559.2:c.1689T= ENSP00000515065.2:p.Cys563=
ENST00000700563.2:c.1689T= ENSP00000515066.2:p.Cys563=
ENST00000546498.2:n.376T=
ENST00000700555.1:c.129T= ENSP00000515062.1:p.Cys43=
ENST00000700556.1:c.160T=
ENST00000700559.1:c.904T=
ENST00000700560.1:n.904T=
ENST00000700561.1:n.1030T=
ENST00000700563.1:c.1643T=
ENST00000700564.1:n.1693T=
ENST00000070846.11:c.1821T= ENSP00000070846.6:p.Cys607=
ENST00000340811.9:c.1689T= MANE Select ENSP00000342800.5:p.Cys563=
ENST00000070846.10:c.1821T= ENSP00000070846.6:p.Cys607=
ENST00000340811.8:c.1689T= ENSP00000342800.4:p.Cys563=
ENST00000546498.1:n.376T=
ENST00000552612.5:n.110T=
ENST00000613243.1:c.1821T= ENSP00000478295.1:p.Cys607=
NM_001005242.2:c.1689T= NP_001005242.2:p.Cys563=
NM_004572.3:c.1821T= , LRG_398t1:c.1821T= NP_004563.2:p.Cys607=
NM_001005242.3:c.1689T= MANE Select NP_001005242.2:p.Cys563=
NM_004572.4:c.1821T= NP_004563.2:p.Cys607=