Canonical Allele Identifier: CA346003900
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1166228235
gnomAD v2: 2-21233916-A-G
gnomAD v4: 2-21011044-A-G
MyVariant Identifiers: chr2:g.21233916A>G (hg19) chr2:g.21011044A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011044A>G , CM000664.2:g.21011044A>G GRCh38
NC_000002.11:g.21233916A>G , CM000664.1:g.21233916A>G GRCh37
NC_000002.10:g.21087421A>G NCBI36
NG_011793.1:g.38030T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5824T>C MANE Select ENSP00000233242.1:p.Phe1942Leu
ENST00000616098.4:c.5824T>C ENSP00000477990.1:p.Phe1942Leu
NM_000384.2:c.5824T>C NP_000375.2:p.Phe1942Leu
XM_011532809.1:c.5824T>C XP_011531111.1:p.Phe1942Leu
NM_000384.3:c.5824T>C MANE Select NP_000375.3:p.Phe1942Leu
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