Canonical Allele Identifier: CA891843478

Gene: PKP2

Linked Data

• ClinVar Variation Id: 568301
• ClinVar RCV Id: RCV000688615
• dbSNP Id: rs1565586958
• MyVariant Identifiers: chr12:g.32994108del (hg19) ; chr12:g.32841174del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841176del , CM000674.2:g.32841176del	GRCh38
NC_000012.11:g.32994110del , CM000674.1:g.32994110del	GRCh37
NC_000012.10:g.32885377del	NCBI36
NG_009000.1:g.60673del , LRG_398:g.60673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1410del	ENSP00000515065.2:p.Lys470AsnfsTer6
ENST00000700563.2:c.1410del	ENSP00000515066.2:p.Lys470AsnfsTer6
ENST00000700559.1:c.625del
ENST00000700560.1:n.625del
ENST00000700561.1:n.751del
ENST00000700563.1:c.1364del
ENST00000700564.1:n.1414del
ENST00000700565.1:n.1263del
ENST00000070846.11:c.1542del	ENSP00000070846.6:p.Lys514AsnfsTer6
ENST00000340811.9:c.1410del MANE Select	ENSP00000342800.5:p.Lys470AsnfsTer6
ENST00000070846.10:c.1542del	ENSP00000070846.6:p.Lys514AsnfsTer6
ENST00000340811.8:c.1410del	ENSP00000342800.4:p.Lys470AsnfsTer6
ENST00000613243.1:c.1542del	ENSP00000478295.1:p.Lys514AsnfsTer6
NM_001005242.2:c.1410del	NP_001005242.2:p.Lys470AsnfsTer6
NM_004572.3:c.1542del , LRG_398t1:c.1542del	NP_004563.2:p.Lys514AsnfsTer6
NM_001005242.3:c.1410del MANE Select	NP_001005242.2:p.Lys470AsnfsTer6
NM_004572.4:c.1542del	NP_004563.2:p.Lys514AsnfsTer6