Canonical Allele Identifier: CA346000972
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663266581
gnomAD v4: 2-21010169-A-C
MyVariant Identifiers: chr2:g.21233041A>C (hg19) chr2:g.21010169A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010169A>C , CM000664.2:g.21010169A>C GRCh38
NC_000002.11:g.21233041A>C , CM000664.1:g.21233041A>C GRCh37
NC_000002.10:g.21086546A>C NCBI36
NG_011793.1:g.38905T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6699T>G MANE Select ENSP00000233242.1:p.Ile2233Met
ENST00000616098.4:c.6699T>G ENSP00000477990.1:p.Ile2233Met
NM_000384.2:c.6699T>G NP_000375.2:p.Ile2233Met
XM_011532809.1:c.5869+564T>G XP_011531111.1:n.5869+564T>G
NM_000384.3:c.6699T>G MANE Select NP_000375.3:p.Ile2233Met
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