Canonical Allele Identifier: CA425345752
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010379-G-T
COSMIC: COSM1405083
MyVariant Identifiers: chr2:g.21233251G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010379G>T , CM000664.2:g.21010379G>T GRCh38
NC_000002.11:g.21233251G>T , CM000664.1:g.21233251G>T GRCh37
NC_000002.10:g.21086756G>T NCBI36
NG_011793.1:g.38695C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6489C>A MANE Select ENSP00000233242.1:p.Ala2163=
ENST00000616098.4:c.6489C>A ENSP00000477990.1:p.Ala2163=
NM_000384.2:c.6489C>A NP_000375.2:p.Ala2163=
XM_011532809.1:c.5869+354C>A XP_011531111.1:n.5869+354C>A
NM_000384.3:c.6489C>A MANE Select NP_000375.3:p.Ala2163=
Search 100 bp 5'
Search 100 bp 3'