Canonical Allele Identifier: CA531312753
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 569699
ClinVar RCV Id: RCV001838098 RCV002473109
dbSNP Id: rs1558564161
gnomAD v2: 2-21233196-CA-C
gnomAD v4: 2-21010324-CA-C
MyVariant Identifiers: chr2:g.21233197del (hg19) chr2:g.21010325del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010327del , CM000664.2:g.21010327del GRCh38
NC_000002.11:g.21233199del , CM000664.1:g.21233199del GRCh37
NC_000002.10:g.21086704del NCBI36
NG_011793.1:g.38749del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6543del MANE Select ENSP00000233242.1:p.Phe2181LeufsTer14
ENST00000616098.4:c.6543del ENSP00000477990.1:p.Phe2181LeufsTer14
NM_000384.2:c.6543del NP_000375.2:p.Phe2181LeufsTer14
XM_011532809.1:c.5869+408del XP_011531111.1:n.5869+408del
NM_000384.3:c.6543del MANE Select NP_000375.3:p.Phe2181LeufsTer14
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Search 100 bp 3'