Canonical Allele Identifier: CA2838286112
Gene: PKP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32868835del , CM000674.2:g.32868835del GRCh38
NC_000012.11:g.33021769del , CM000674.1:g.33021769del GRCh37
NC_000012.10:g.32913036del NCBI36
NG_009000.1:g.33016del , LRG_398:g.33016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1170+96del ENSP00000515065.2:n.1170+96del
ENST00000700563.2:c.1170+96del ENSP00000515066.2:n.1170+96del
ENST00000700559.1:c.385+96del
ENST00000700560.1:n.385+96del
ENST00000700561.1:n.511+96del
ENST00000700563.1:c.1124+96del
ENST00000700564.1:n.1174+96del
ENST00000700565.1:n.1023+96del
ENST00000070846.11:c.1170+96del ENSP00000070846.6:n.1170+96del
ENST00000340811.9:c.1170+96del MANE Select ENSP00000342800.5:n.1170+96del
ENST00000070846.10:c.1170+96del ENSP00000070846.6:n.1170+96del
ENST00000340811.8:c.1170+96del ENSP00000342800.4:n.1170+96del
ENST00000613243.1:c.1170+96del ENSP00000478295.1:n.1170+96del
NM_001005242.2:c.1170+96del NP_001005242.2:n.1170+96del
NM_004572.3:c.1170+96del , LRG_398t1:c.1170+96del NP_004563.2:n.1170+96del
NM_001005242.3:c.1170+96del MANE Select NP_001005242.2:n.1170+96del
NM_004572.4:c.1170+96del NP_004563.2:n.1170+96del