Canonical Allele Identifier: CA011004
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 45022
dbSNP Id: rs397516994

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32850765C>G , CM000674.2:g.32850765C>G GRCh38
NC_000012.11:g.33003699C>G , CM000674.1:g.33003699C>G GRCh37
NC_000012.10:g.32894966C>G NCBI36
NG_009000.1:g.51082G>C , LRG_398:g.51082G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1378+1G>C ENSP00000515065.2:n.1378+1G>C
ENST00000700563.2:c.1378+1G>C ENSP00000515066.2:n.1378+1G>C
ENST00000700559.1:c.593+1G>C
ENST00000700560.1:n.593+1G>C
ENST00000700561.1:n.719+1G>C
ENST00000700563.1:c.1332+1G>C
ENST00000700564.1:n.1382+1G>C
ENST00000700565.1:n.1231+1G>C
ENST00000070846.11:c.1378+1G>C ENSP00000070846.6:n.1378+1G>C
ENST00000340811.9:c.1378+1G>C MANE Select ENSP00000342800.5:n.1378+1G>C
ENST00000070846.10:c.1378+1G>C ENSP00000070846.6:n.1378+1G>C
ENST00000340811.8:c.1378+1G>C ENSP00000342800.4:n.1378+1G>C
ENST00000613243.1:c.1378+1G>C ENSP00000478295.1:n.1378+1G>C
NM_001005242.2:c.1378+1G>C NP_001005242.2:n.1378+1G>C
NM_004572.3:c.1378+1G>C , LRG_398t1:c.1378+1G>C NP_004563.2:n.1378+1G>C
NM_001005242.3:c.1378+1G>C MANE Select NP_001005242.2:n.1378+1G>C
NM_004572.4:c.1378+1G>C NP_004563.2:n.1378+1G>C