Canonical Allele Identifier: CA658797870

Gene: PKP2

Linked Data

• ClinVar Variation Id: 523702
• ClinVar RCV Id: RCV000627148
• dbSNP Id: rs1555148259
• MyVariant Identifiers: chr12:g.33031913_33031917del (hg19) ; chr12:g.32878979_32878983del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878979_32878983del , CM000674.2:g.32878979_32878983del	GRCh38
NC_000012.11:g.33031913_33031917del , CM000674.1:g.33031913_33031917del	GRCh37
NC_000012.10:g.32923180_32923184del	NCBI36
NG_009000.1:g.22864_22868del , LRG_398:g.22864_22868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.273_277del	ENSP00000515065.2:p.Leu92Ter
ENST00000700563.2:c.273_277del	ENSP00000515066.2:p.Leu92Ter
ENST00000700563.1:c.227_231del
ENST00000700564.1:n.277_281del
ENST00000700565.1:n.126_130del
ENST00000070846.11:c.273_277del	ENSP00000070846.6:p.Leu92Ter
ENST00000340811.9:c.273_277del MANE Select	ENSP00000342800.5:p.Leu92Ter
ENST00000070846.10:c.273_277del	ENSP00000070846.6:p.Leu92Ter
ENST00000340811.8:c.273_277del	ENSP00000342800.4:p.Leu92Ter
ENST00000613243.1:c.273_277del	ENSP00000478295.1:p.Leu92Ter
NM_001005242.2:c.273_277del	NP_001005242.2:p.Leu92Ter
NM_004572.3:c.273_277del , LRG_398t1:c.273_277del	NP_004563.2:p.Leu92Ter
NM_001005242.3:c.273_277del MANE Select	NP_001005242.2:p.Leu92Ter
NM_004572.4:c.273_277del	NP_004563.2:p.Leu92Ter