Canonical Allele Identifier: CA16619520
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423160
ClinVar RCV Id: RCV000486421
dbSNP Id: rs1064796268
MyVariant Identifiers: chr12:g.33031854_33031864del (hg19) chr12:g.32878920_32878930del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32878921_32878931del , CM000674.2:g.32878921_32878931del GRCh38
NC_000012.11:g.33031855_33031865del , CM000674.1:g.33031855_33031865del GRCh37
NC_000012.10:g.32923122_32923132del NCBI36
NG_009000.1:g.22917_22927del , LRG_398:g.22917_22927del

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.326_336del ENSP00000515065.2:p.Asp109GlyfsTer8
ENST00000700563.2:c.326_336del ENSP00000515066.2:p.Asp109GlyfsTer8
ENST00000700563.1:c.280_290del
ENST00000700564.1:n.330_340del
ENST00000700565.1:n.179_189del
ENST00000070846.11:c.326_336del ENSP00000070846.6:p.Asp109GlyfsTer8
ENST00000340811.9:c.326_336del MANE Select ENSP00000342800.5:p.Asp109GlyfsTer8
ENST00000070846.10:c.326_336del ENSP00000070846.6:p.Asp109GlyfsTer8
ENST00000340811.8:c.326_336del ENSP00000342800.4:p.Asp109GlyfsTer8
ENST00000613243.1:c.326_336del ENSP00000478295.1:p.Asp109GlyfsTer8
NM_001005242.2:c.326_336del NP_001005242.2:p.Asp109GlyfsTer8
NM_004572.3:c.326_336del , LRG_398t1:c.326_336del NP_004563.2:p.Asp109GlyfsTer8
NM_001005242.3:c.326_336del MANE Select NP_001005242.2:p.Asp109GlyfsTer8
NM_004572.4:c.326_336del NP_004563.2:p.Asp109GlyfsTer8
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