Canonical Allele Identifier: CA346001692
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1753683
ClinVar RCV Id: RCV002361926 RCV003776261
dbSNP Id: rs1232529396
gnomAD v2: 2-21233273-A-T
gnomAD v4: 2-21010401-A-T
MyVariant Identifiers: chr2:g.21233273A>T (hg19) chr2:g.21010401A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010401A>T , CM000664.2:g.21010401A>T GRCh38
NC_000002.11:g.21233273A>T , CM000664.1:g.21233273A>T GRCh37
NC_000002.10:g.21086778A>T NCBI36
NG_011793.1:g.38673T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6467T>A MANE Select ENSP00000233242.1:p.Ile2156Lys
ENST00000616098.4:c.6467T>A ENSP00000477990.1:p.Ile2156Lys
NM_000384.2:c.6467T>A NP_000375.2:p.Ile2156Lys
XM_011532809.1:c.5869+332T>A XP_011531111.1:n.5869+332T>A
NM_000384.3:c.6467T>A MANE Select NP_000375.3:p.Ile2156Lys
Search 100 bp 5'
Search 100 bp 3'