Canonical Allele Identifier: CA16606597
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379775
ClinVar RCV Id: RCV000425852
dbSNP Id: rs1057520726
MyVariant Identifiers: chr12:g.32974289C>G (hg19) chr12:g.32821355C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32821355C>G , CM000674.2:g.32821355C>G GRCh38
NC_000012.11:g.32974289C>G , CM000674.1:g.32974289C>G GRCh37
NC_000012.10:g.32865556C>G NCBI36
NG_009000.1:g.80492G>C , LRG_398:g.80492G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700555.2:n.516+1G>C
ENST00000700559.2:c.2013+1G>C ENSP00000515065.2:n.2013+1G>C
ENST00000700563.2:c.2013+1G>C ENSP00000515066.2:n.2013+1G>C
ENST00000546498.2:n.700+1G>C
ENST00000549461.2:n.552+1G>C
ENST00000700555.1:c.444+1G>C ENSP00000515062.1:n.444+1G>C
ENST00000700556.1:c.484+1G>C
ENST00000700558.1:n.227+1G>C
ENST00000700559.1:c.1228+1G>C
ENST00000700560.1:n.1228+1G>C
ENST00000700561.1:n.1354+1G>C
ENST00000700562.1:n.551+1G>C
ENST00000700563.1:c.1967+1G>C
ENST00000700564.1:n.2018G>C
ENST00000070846.11:c.2145+1G>C ENSP00000070846.6:n.2145+1G>C
ENST00000340811.9:c.2013+1G>C MANE Select ENSP00000342800.5:n.2013+1G>C
ENST00000070846.10:c.2145+1G>C ENSP00000070846.6:n.2145+1G>C
ENST00000340811.8:c.2013+1G>C ENSP00000342800.4:n.2013+1G>C
ENST00000549461.1:n.459+1G>C
ENST00000552612.5:n.435G>C
ENST00000613243.1:c.2145+1G>C ENSP00000478295.1:n.2145+1G>C
NM_001005242.2:c.2013+1G>C NP_001005242.2:n.2013+1G>C
NM_004572.3:c.2145+1G>C , LRG_398t1:c.2145+1G>C NP_004563.2:n.2145+1G>C
NM_001005242.3:c.2013+1G>C MANE Select NP_001005242.2:n.2013+1G>C
NM_004572.4:c.2145+1G>C NP_004563.2:n.2145+1G>C
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