Canonical Allele Identifier: CA1139662561

Gene: PKP2

Linked Data

• ClinVar Variation Id: 935758
• ClinVar RCV Id: RCV001204417

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32801401_32802415del , CM000674.2:g.32801401_32802415del	GRCh38
NC_000012.11:g.32954335_32955349del , CM000674.1:g.32954335_32955349del	GRCh37
NC_000012.10:g.32845602_32846616del	NCBI36
NG_009000.1:g.99438_100452del , LRG_398:g.99438_100452del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.664_670+1008del
ENST00000700557.2:n.253_259+1008del
ENST00000700559.2:c.2161_2167+1008del
ENST00000546498.2:n.848_854+1008del
ENST00000549461.2:n.659+41_659+1055del
ENST00000700555.1:c.592_598+1008del
ENST00000700556.1:c.632_638+1008del
ENST00000700557.1:c.172_178+1008del
ENST00000700558.1:n.375_381+1008del
ENST00000700559.1:c.1376_1382+1008del
ENST00000700560.1:n.1376_1382+1008del
ENST00000700561.1:n.1502_1508+1008del
ENST00000070846.11:c.2293_2299+1008del
ENST00000340811.9:c.2161_2167+1008del
ENST00000070846.10:c.2293_2299+1008del
ENST00000340811.8:c.2161_2167+1008del
ENST00000613243.1:c.2293_2299+1008del
NM_001005242.2:c.2161_2167+1008del
NM_004572.3:c.2293_2299+1008del , LRG_398t1:c.2293_2299+1008del
NM_001005242.3:c.2161_2167+1008del
NM_004572.4:c.2293_2299+1008del