Canonical Allele Identifier: CA345969514
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21002347-A-T
MyVariant Identifiers: chr2:g.21225219A>T (hg19) chr2:g.21002347A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002347A>T , CM000664.2:g.21002347A>T GRCh38
NC_000002.11:g.21225219A>T , CM000664.1:g.21225219A>T GRCh37
NC_000002.10:g.21078724A>T NCBI36
NG_011793.1:g.46727T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13075T>A MANE Select ENSP00000233242.1:p.Phe4359Ile
ENST00000616098.4:c.13073T>A ENSP00000477990.1:n.13073T>A
NM_000384.2:c.13075T>A NP_000375.2:p.Phe4359Ile
XM_011532809.1:c.5870-3074T>A XP_011531111.1:n.5870-3074T>A
NM_000384.3:c.13075T>A MANE Select NP_000375.3:p.Phe4359Ile
Search 100 bp 5'
Search 100 bp 3'