Canonical Allele Identifier: CA2026398677
Community Standard Title: NM_001005242.3(PKP2):c.1577C= (p.Ala526=)
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32824142G= , CM000674.2:g.32824142G= GRCh38
NC_000012.11:g.32977076G= , CM000674.1:g.32977076G= GRCh37
NC_000012.10:g.32868343G= NCBI36
NG_009000.1:g.77705C= , LRG_398:g.77705C=

Transcript Alleles

HGVS Amino-acid Change
NM_001005242.3:c.1577C= MANE Select NP_001005242.2:p.Ala526=
ENST00000340811.9:c.1577C= MANE Select ENSP00000342800.5:p.Ala526=
NM_001005242.2:c.1577C= NP_001005242.2:p.Ala526=
NM_004572.3:c.1709C= , LRG_398t1:c.1709C= NP_004563.2:p.Ala570=
NM_004572.4:c.1709C= NP_004563.2:p.Ala570=
ENST00000070846.10:c.1709C= ENSP00000070846.6:p.Ala570=
ENST00000070846.11:c.1709C= ENSP00000070846.6:p.Ala570=
ENST00000340811.8:c.1577C= ENSP00000342800.4:p.Ala526=
ENST00000546498.1:n.264C=
ENST00000546498.2:n.264C=
ENST00000613243.1:c.1709C= ENSP00000478295.1:p.Ala570=
ENST00000700555.1:c.17C= ENSP00000515062.1:p.Ala6=
ENST00000700555.2:n.89C=
ENST00000700556.1:c.48C=
ENST00000700559.1:c.792C=
ENST00000700559.2:c.1577C= ENSP00000515065.2:p.Ala526=
ENST00000700560.1:n.792C=
ENST00000700561.1:n.918C=
ENST00000700563.1:c.1531C=
ENST00000700563.2:c.1577C= ENSP00000515066.2:p.Ala526=
ENST00000700564.1:n.1581C=