Canonical Allele Identifier: CA011187
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 202018
ClinVar RCV Id: RCV000183789 RCV001251408
dbSNP Id: rs794729126
MyVariant Identifiers: chr12:g.32994071del (hg19) chr12:g.32841137del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32841137del , CM000674.2:g.32841137del GRCh38
NC_000012.11:g.32994071del , CM000674.1:g.32994071del GRCh37
NC_000012.10:g.32885338del NCBI36
NG_009000.1:g.60710del , LRG_398:g.60710del

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.1447del ENSP00000515065.2:p.Leu483Ter
ENST00000700563.2:c.1447del ENSP00000515066.2:p.Leu483Ter
ENST00000700559.1:c.662del
ENST00000700560.1:n.662del
ENST00000700561.1:n.788del
ENST00000700563.1:c.1401del
ENST00000700564.1:n.1451del
ENST00000700565.1:n.1300del
ENST00000070846.11:c.1579del ENSP00000070846.6:p.Leu527Ter
ENST00000340811.9:c.1447del MANE Select ENSP00000342800.5:p.Leu483Ter
ENST00000070846.10:c.1579del ENSP00000070846.6:p.Leu527Ter
ENST00000340811.8:c.1447del ENSP00000342800.4:p.Leu483Ter
ENST00000613243.1:c.1579del ENSP00000478295.1:p.Leu527Ter
NM_001005242.2:c.1447del NP_001005242.2:p.Leu483Ter
NM_004572.3:c.1579del , LRG_398t1:c.1579del NP_004563.2:p.Leu527Ter
NM_001005242.3:c.1447del MANE Select NP_001005242.2:p.Leu483Ter
NM_004572.4:c.1579del NP_004563.2:p.Leu527Ter
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