Canonical Allele Identifier: CA308754
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 202010
ClinVar RCV Id: RCV000183780 RCV000852449 RCV001221489
dbSNP Id: rs794729120
MyVariant Identifiers: chr12:g.33031934dupA (hg19) chr12:g.33031933_33031934insA (hg19) chr12:g.32879000dupA (hg38) chr12:g.32878999_32879000insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32879000dup , CM000674.2:g.32879000dup GRCh38
NC_000012.11:g.33031934dup , CM000674.1:g.33031934dup GRCh37
NC_000012.10:g.32923201dup NCBI36
NG_009000.1:g.22847dup , LRG_398:g.22847dup

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.256dup ENSP00000515065.2:p.Tyr86LeufsTer9
ENST00000700563.2:c.256dup ENSP00000515066.2:p.Tyr86LeufsTer9
ENST00000700563.1:c.210dup
ENST00000700564.1:n.260dup
ENST00000700565.1:n.109dup
ENST00000070846.11:c.256dup ENSP00000070846.6:p.Tyr86LeufsTer9
ENST00000340811.9:c.256dup MANE Select ENSP00000342800.5:p.Tyr86LeufsTer9
ENST00000070846.10:c.256dup ENSP00000070846.6:p.Tyr86LeufsTer9
ENST00000340811.8:c.256dup ENSP00000342800.4:p.Tyr86LeufsTer9
ENST00000613243.1:c.256dup ENSP00000478295.1:p.Tyr86LeufsTer9
NM_001005242.2:c.256dup NP_001005242.2:p.Tyr86LeufsTer9
NM_004572.3:c.256dup , LRG_398t1:c.256dup NP_004563.2:p.Tyr86LeufsTer9
NM_001005242.3:c.256dup MANE Select NP_001005242.2:p.Tyr86LeufsTer9
NM_004572.4:c.256dup NP_004563.2:p.Tyr86LeufsTer9
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