Canonical Allele Identifier: CA012228

Gene: PKP2

Linked Data

• ClinVar Variation Id: 45075
• ClinVar RCV Id: RCV000038216 ; RCV000415162
• dbSNP Id: rs397517025
• MyVariant Identifiers: chr12:g.33031918_33031921del (hg19) ; chr12:g.32878984_32878987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878984_32878987del , CM000674.2:g.32878984_32878987del	GRCh38
NC_000012.11:g.33031918_33031921del , CM000674.1:g.33031918_33031921del	GRCh37
NC_000012.10:g.32923185_32923188del	NCBI36
NG_009000.1:g.22860_22863del , LRG_398:g.22860_22863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.269_272del	ENSP00000515065.2:p.Leu90ProfsTer21
ENST00000700563.2:c.269_272del	ENSP00000515066.2:p.Leu90ProfsTer21
ENST00000700563.1:c.223_226del
ENST00000700564.1:n.273_276del
ENST00000700565.1:n.122_125del
ENST00000070846.11:c.269_272del	ENSP00000070846.6:p.Leu90ProfsTer21
ENST00000340811.9:c.269_272del MANE Select	ENSP00000342800.5:p.Leu90ProfsTer21
ENST00000070846.10:c.269_272del	ENSP00000070846.6:p.Leu90ProfsTer21
ENST00000340811.8:c.269_272del	ENSP00000342800.4:p.Leu90ProfsTer21
ENST00000613243.1:c.269_272del	ENSP00000478295.1:p.Leu90ProfsTer21
NM_001005242.2:c.269_272del	NP_001005242.2:p.Leu90ProfsTer21
NM_004572.3:c.269_272del , LRG_398t1:c.269_272del	NP_004563.2:p.Leu90ProfsTer21
NM_001005242.3:c.269_272del MANE Select	NP_001005242.2:p.Leu90ProfsTer21
NM_004572.4:c.269_272del	NP_004563.2:p.Leu90ProfsTer21