Canonical Allele Identifier: CA2580085385

Gene: PKP2

Linked Data

• ClinVar Variation Id: 2442855
• ClinVar RCV Id: RCV003150661

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841027_32850974del , CM000674.2:g.32841027_32850974del	GRCh38
NC_000012.11:g.32993961_33003908del , CM000674.1:g.32993961_33003908del	GRCh37
NC_000012.10:g.32885228_32895175del	NCBI36
NG_009000.1:g.50873_60820del , LRG_398:g.50873_60820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-1_1556+1del
ENST00000700563.2:c.1171-1_1556+1del
ENST00000700559.1:c.386-1_771+1del
ENST00000700560.1:n.386-1_771+1del
ENST00000700561.1:n.512-1_897+1del
ENST00000700563.1:c.1125-1_1510+1del
ENST00000700564.1:n.1175-1_1560+1del
ENST00000700565.1:n.1024-1_1410del
ENST00000070846.11:c.1171-1_1688+1del
ENST00000340811.9:c.1171-1_1556+1del
ENST00000070846.10:c.1171-1_1688+1del
ENST00000340811.8:c.1171-1_1556+1del
ENST00000613243.1:c.1171-1_1688+1del
NM_001005242.2:c.1171-1_1556+1del
NM_004572.3:c.1171-1_1688+1del , LRG_398t1:c.1171-1_1688+1del
NM_001005242.3:c.1171-1_1556+1del
NM_004572.4:c.1171-1_1688+1del