Canonical Allele Identifier: CA034998
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 533036
dbSNP Id: rs766802880

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32879020C>T , CM000674.2:g.32879020C>T GRCh38
NC_000012.11:g.33031954C>T , CM000674.1:g.33031954C>T GRCh37
NC_000012.10:g.32923221C>T NCBI36
NG_009000.1:g.22827G>A , LRG_398:g.22827G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.236G>A ENSP00000515065.2:p.Arg79Gln
ENST00000700563.2:c.236G>A ENSP00000515066.2:p.Arg79Gln
ENST00000700563.1:c.190G>A
ENST00000700564.1:n.240G>A
ENST00000700565.1:n.89G>A
ENST00000070846.11:c.236G>A ENSP00000070846.6:p.Arg79Gln
ENST00000340811.9:c.236G>A MANE Select ENSP00000342800.5:p.Arg79Gln
ENST00000070846.10:c.236G>A ENSP00000070846.6:p.Arg79Gln
ENST00000340811.8:c.236G>A ENSP00000342800.4:p.Arg79Gln
ENST00000613243.1:c.236G>A ENSP00000478295.1:p.Arg79Gln
NM_001005242.2:c.236G>A NP_001005242.2:p.Arg79Gln
NM_004572.3:c.236G>A , LRG_398t1:c.236G>A NP_004563.2:p.Arg79Gln
NM_001005242.3:c.236G>A MANE Select NP_001005242.2:p.Arg79Gln
NM_004572.4:c.236G>A NP_004563.2:p.Arg79Gln