Canonical Allele Identifier: CA346000837
Gene: APOB HGNC NCBI

Linked Data

COSMIC: COSM4504764
MyVariant Identifiers: chr2:g.21233000G>A (hg19) chr2:g.21010128G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010128G>A , CM000664.2:g.21010128G>A GRCh38
NC_000002.11:g.21233000G>A , CM000664.1:g.21233000G>A GRCh37
NC_000002.10:g.21086505G>A NCBI36
NG_011793.1:g.38946C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6740C>T MANE Select ENSP00000233242.1:p.Ser2247Phe
ENST00000616098.4:c.6740C>T ENSP00000477990.1:p.Ser2247Phe
NM_000384.2:c.6740C>T NP_000375.2:p.Ser2247Phe
XM_011532809.1:c.5869+605C>T XP_011531111.1:n.5869+605C>T
NM_000384.3:c.6740C>T MANE Select NP_000375.3:p.Ser2247Phe
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