Canonical Allele Identifier: CA346001610
Gene: APOB HGNC NCBI

Linked Data

COSMIC: COSM136238
MyVariant Identifiers: chr2:g.21233235C>T (hg19) chr2:g.21010363C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010363C>T , CM000664.2:g.21010363C>T GRCh38
NC_000002.11:g.21233235C>T , CM000664.1:g.21233235C>T GRCh37
NC_000002.10:g.21086740C>T NCBI36
NG_011793.1:g.38711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6505G>A MANE Select ENSP00000233242.1:p.Glu2169Lys
ENST00000616098.4:c.6505G>A ENSP00000477990.1:p.Glu2169Lys
NM_000384.2:c.6505G>A NP_000375.2:p.Glu2169Lys
XM_011532809.1:c.5869+370G>A XP_011531111.1:n.5869+370G>A
NM_000384.3:c.6505G>A MANE Select NP_000375.3:p.Glu2169Lys
Search 100 bp 5'
Search 100 bp 3'