Canonical Allele Identifier: CA011338
Gene: PKP2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.32824142del
GRCh37 chr12:g.32977076del
gnomAD v4:
chr12-32824141-AG-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000038180
ClinVar Variation:
45041
dbSNP:
397517005
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700555.2:n.89del
ENST00000700559.2:c.1577del ENSP00000515065.2:p.Ala526ValfsTer7
ENST00000700563.2:c.1577del ENSP00000515066.2:p.Ala526ValfsTer7
ENST00000546498.2:n.264del
ENST00000700555.1:c.17del ENSP00000515062.1:p.Ala6ValfsTer7
ENST00000700556.1:c.48del
ENST00000700559.1:c.792del
ENST00000700560.1:n.792del
ENST00000700561.1:n.918del
ENST00000700563.1:c.1531del
ENST00000700564.1:n.1581del
ENST00000070846.11:c.1709del ENSP00000070846.6:p.Ala570ValfsTer7
ENST00000340811.9:c.1577del MANE Select ENSP00000342800.5:p.Ala526ValfsTer7
ENST00000070846.10:c.1709del ENSP00000070846.6:p.Ala570ValfsTer7
ENST00000340811.8:c.1577del ENSP00000342800.4:p.Ala526ValfsTer7
ENST00000546498.1:n.264del
ENST00000613243.1:c.1709del ENSP00000478295.1:p.Ala570ValfsTer7
NM_001005242.2:c.1577del NP_001005242.2:p.Ala526ValfsTer7
NM_004572.3:c.1709del , LRG_398t1:c.1709del NP_004563.2:p.Ala570ValfsTer7
NM_001005242.3:c.1577del MANE Select NP_001005242.2:p.Ala526ValfsTer7
NM_004572.4:c.1709del NP_004563.2:p.Ala570ValfsTer7
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