Canonical Allele Identifier: CA011947
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6754
dbSNP Id: rs121434420
COSMIC: COSM468293

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32879021G>A , CM000674.2:g.32879021G>A GRCh38
NC_000012.11:g.33031955G>A , CM000674.1:g.33031955G>A GRCh37
NC_000012.10:g.32923222G>A NCBI36
NG_009000.1:g.22826C>T , LRG_398:g.22826C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.235C>T ENSP00000515065.2:p.Arg79Ter
ENST00000700563.2:c.235C>T ENSP00000515066.2:p.Arg79Ter
ENST00000700563.1:c.189C>T
ENST00000700564.1:n.239C>T
ENST00000700565.1:n.88C>T
ENST00000070846.11:c.235C>T ENSP00000070846.6:p.Arg79Ter
ENST00000340811.9:c.235C>T MANE Select ENSP00000342800.5:p.Arg79Ter
ENST00000070846.10:c.235C>T ENSP00000070846.6:p.Arg79Ter
ENST00000340811.8:c.235C>T ENSP00000342800.4:p.Arg79Ter
ENST00000613243.1:c.235C>T ENSP00000478295.1:p.Arg79Ter
NM_001005242.2:c.235C>T NP_001005242.2:p.Arg79Ter
NM_004572.3:c.235C>T , LRG_398t1:c.235C>T NP_004563.2:p.Arg79Ter
NM_001005242.3:c.235C>T MANE Select NP_001005242.2:p.Arg79Ter
NM_004572.4:c.235C>T NP_004563.2:p.Arg79Ter