Canonical Allele Identifier: CA687460226

Gene: PKP2

Linked Data

• dbSNP Id: rs1451476554
• MyVariant Identifiers: chr12:g.32993993_32994002del (hg19) ; chr12:g.32841059_32841068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841063_32841072del , CM000674.2:g.32841063_32841072del	GRCh38
NC_000012.11:g.32993997_32994006del , CM000674.1:g.32993997_32994006del	GRCh37
NC_000012.10:g.32885264_32885273del	NCBI36
NG_009000.1:g.60779_60788del , LRG_398:g.60779_60788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1516_1525del	ENSP00000515065.2:p.Leu506ThrfsTer10
ENST00000700563.2:c.1516_1525del	ENSP00000515066.2:p.Leu506ThrfsTer10
ENST00000700559.1:c.731_740del
ENST00000700560.1:n.731_740del
ENST00000700561.1:n.857_866del
ENST00000700563.1:c.1470_1479del
ENST00000700564.1:n.1520_1529del
ENST00000700565.1:n.1369_1378del
ENST00000070846.11:c.1648_1657del	ENSP00000070846.6:p.Leu550ThrfsTer10
ENST00000340811.9:c.1516_1525del MANE Select	ENSP00000342800.5:p.Leu506ThrfsTer10
ENST00000070846.10:c.1648_1657del	ENSP00000070846.6:p.Leu550ThrfsTer10
ENST00000340811.8:c.1516_1525del	ENSP00000342800.4:p.Leu506ThrfsTer10
ENST00000613243.1:c.1648_1657del	ENSP00000478295.1:p.Leu550ThrfsTer10
NM_001005242.2:c.1516_1525del	NP_001005242.2:p.Leu506ThrfsTer10
NM_004572.3:c.1648_1657del , LRG_398t1:c.1648_1657del	NP_004563.2:p.Leu550ThrfsTer10
NM_001005242.3:c.1516_1525del MANE Select	NP_001005242.2:p.Leu506ThrfsTer10
NM_004572.4:c.1648_1657del	NP_004563.2:p.Leu550ThrfsTer10