Canonical Allele Identifier: CA346001402
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21233146A>C (hg19) chr2:g.21010274A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010274A>C , CM000664.2:g.21010274A>C GRCh38
NC_000002.11:g.21233146A>C , CM000664.1:g.21233146A>C GRCh37
NC_000002.10:g.21086651A>C NCBI36
NG_011793.1:g.38800T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6594T>G MANE Select ENSP00000233242.1:p.Ile2198Met
ENST00000616098.4:c.6594T>G ENSP00000477990.1:p.Ile2198Met
NM_000384.2:c.6594T>G NP_000375.2:p.Ile2198Met
XM_011532809.1:c.5869+459T>G XP_011531111.1:n.5869+459T>G
NM_000384.3:c.6594T>G MANE Select NP_000375.3:p.Ile2198Met
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