Canonical Allele Identifier: CA010783
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 45007
ClinVar RCV Id: RCV002464092 RCV003934919
dbSNP Id: rs200586695
ExAC: 12:33021917 C / G
gnomAD v2: 12-33021917-C-G
gnomAD v3: 12-32868983-C-G
gnomAD v4: 12-32868983-C-G
MyVariant Identifiers: chr12:g.33021917C>G (hg19) chr12:g.32868983C>G (hg38)
PubMed: PMID:20031617 PMID:20152563 PMID:20857253 PMID:21062920 PMID:21606390 PMID:23299917 PMID:23861362 PMID:26676851
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32868983C>G , CM000674.2:g.32868983C>G GRCh38
NC_000012.11:g.33021917C>G , CM000674.1:g.33021917C>G GRCh37
NC_000012.10:g.32913184C>G NCBI36
NG_009000.1:g.32864G>C , LRG_398:g.32864G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700559.2:c.1114G>C ENSP00000515065.2:p.Ala372Pro
ENST00000700563.2:c.1114G>C ENSP00000515066.2:p.Ala372Pro
ENST00000700559.1:c.329G>C
ENST00000700560.1:n.329G>C
ENST00000700561.1:n.455G>C
ENST00000700563.1:c.1068G>C
ENST00000700564.1:n.1118G>C
ENST00000700565.1:n.967G>C
ENST00000070846.11:c.1114G>C ENSP00000070846.6:p.Ala372Pro
ENST00000340811.9:c.1114G>C MANE Select ENSP00000342800.5:p.Ala372Pro
ENST00000070846.10:c.1114G>C ENSP00000070846.6:p.Ala372Pro
ENST00000340811.8:c.1114G>C ENSP00000342800.4:p.Ala372Pro
ENST00000613243.1:c.1114G>C ENSP00000478295.1:p.Ala372Pro
NM_001005242.2:c.1114G>C NP_001005242.2:p.Ala372Pro
NM_004572.3:c.1114G>C , LRG_398t1:c.1114G>C NP_004563.2:p.Ala372Pro
NM_001005242.3:c.1114G>C MANE Select NP_001005242.2:p.Ala372Pro
NM_004572.4:c.1114G>C NP_004563.2:p.Ala372Pro
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