Canonical Allele Identifier: CA2573053657

Gene: PKP2

Linked Data

• ClinVar Variation Id: 1329270
• ClinVar RCV Id: RCV001799313
• dbSNP Id: rs2137829787

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841027_32841206del , CM000674.2:g.32841027_32841206del	GRCh38
NC_000012.11:g.32993961_32994140del , CM000674.1:g.32993961_32994140del	GRCh37
NC_000012.10:g.32885228_32885407del	NCBI36
NG_009000.1:g.60641_60820del , LRG_398:g.60641_60820del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1379-1_1556+1del
ENST00000700563.2:c.1379-1_1556+1del
ENST00000700559.1:c.594-1_771+1del
ENST00000700560.1:n.594-1_771+1del
ENST00000700561.1:n.720-1_897+1del
ENST00000700563.1:c.1333-1_1510+1del
ENST00000700564.1:n.1383-1_1560+1del
ENST00000700565.1:n.1232-1_1410del
ENST00000070846.11:c.1511-1_1688+1del
ENST00000340811.9:c.1379-1_1556+1del
ENST00000070846.10:c.1511-1_1688+1del
ENST00000340811.8:c.1379-1_1556+1del
ENST00000613243.1:c.1511-1_1688+1del
NM_001005242.2:c.1379-1_1556+1del
NM_004572.3:c.1511-1_1688+1del , LRG_398t1:c.1511-1_1688+1del
NM_001005242.3:c.1379-1_1556+1del
NM_004572.4:c.1511-1_1688+1del