Canonical Allele Identifier: CA425341815
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1769980
ClinVar RCV Id: RCV002385763
dbSNP Id: rs1297607855
gnomAD v4: 2-21002165-C-T
MyVariant Identifiers: chr2:g.21225037C>T (hg19) chr2:g.21002165C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002165C>T , CM000664.2:g.21002165C>T GRCh38
NC_000002.11:g.21225037C>T , CM000664.1:g.21225037C>T GRCh37
NC_000002.10:g.21078542C>T NCBI36
NG_011793.1:g.46909G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13257G>A MANE Select ENSP00000233242.1:p.Lys4419=
ENST00000616098.4:c.13255G>A ENSP00000477990.1:n.13255G>A
NM_000384.2:c.13257G>A NP_000375.2:p.Lys4419=
XM_011532809.1:c.5870-2892G>A XP_011531111.1:n.5870-2892G>A
NM_000384.3:c.13257G>A MANE Select NP_000375.3:p.Lys4419=
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Search 100 bp 3'