Canonical Allele Identifier: CA010817
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 45010
ClinVar RCV Id: RCV000211737 RCV000183735 RCV000621345 RCV000798628 RCV001179300
dbSNP Id: rs397516986
gnomAD v2: 12-33021899-G-A
gnomAD v3: 12-32868965-G-A
gnomAD v4: 12-32868965-G-A
MyVariant Identifiers: chr12:g.33021899G>A (hg19) chr12:g.32868965G>A (hg38)
PubMed: PMID:19880068 PMID:20400443 PMID:23514727 PMID:23671136 PMID:23973953 PMID:24585727 PMID:25820315
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32868965G>A , CM000674.2:g.32868965G>A GRCh38
NC_000012.11:g.33021899G>A , CM000674.1:g.33021899G>A GRCh37
NC_000012.10:g.32913166G>A NCBI36
NG_009000.1:g.32882C>T , LRG_398:g.32882C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1132C>T ENSP00000515065.2:p.Gln378Ter
ENST00000700563.2:c.1132C>T ENSP00000515066.2:p.Gln378Ter
ENST00000700559.1:c.347C>T
ENST00000700560.1:n.347C>T
ENST00000700561.1:n.473C>T
ENST00000700563.1:c.1086C>T
ENST00000700564.1:n.1136C>T
ENST00000700565.1:n.985C>T
ENST00000070846.11:c.1132C>T ENSP00000070846.6:p.Gln378Ter
ENST00000340811.9:c.1132C>T MANE Select ENSP00000342800.5:p.Gln378Ter
ENST00000070846.10:c.1132C>T ENSP00000070846.6:p.Gln378Ter
ENST00000340811.8:c.1132C>T ENSP00000342800.4:p.Gln378Ter
ENST00000613243.1:c.1132C>T ENSP00000478295.1:p.Gln378Ter
NM_001005242.2:c.1132C>T NP_001005242.2:p.Gln378Ter
NM_004572.3:c.1132C>T , LRG_398t1:c.1132C>T NP_004563.2:p.Gln378Ter
NM_001005242.3:c.1132C>T MANE Select NP_001005242.2:p.Gln378Ter
NM_004572.4:c.1132C>T NP_004563.2:p.Gln378Ter
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