Canonical Allele Identifier: CA345997458
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs747588681
gnomAD v3: 2-21009570-T-G
gnomAD v4: 2-21009570-T-G
MyVariant Identifiers: chr2:g.21232442T>G (hg19) chr2:g.21009570T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009570T>G , CM000664.2:g.21009570T>G GRCh38
NC_000002.11:g.21232442T>G , CM000664.1:g.21232442T>G GRCh37
NC_000002.10:g.21085947T>G NCBI36
NG_011793.1:g.39504A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7298A>C MANE Select ENSP00000233242.1:p.His2433Pro
ENST00000616098.4:c.7298A>C ENSP00000477990.1:p.His2433Pro
NM_000384.2:c.7298A>C NP_000375.2:p.His2433Pro
XM_011532809.1:c.5869+1163A>C XP_011531111.1:n.5869+1163A>C
NM_000384.3:c.7298A>C MANE Select NP_000375.3:p.His2433Pro
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