Canonical Allele Identifier: CA346001525
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010325-A-T
MyVariant Identifiers: chr2:g.21233197A>T (hg19) chr2:g.21010325A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010325A>T , CM000664.2:g.21010325A>T GRCh38
NC_000002.11:g.21233197A>T , CM000664.1:g.21233197A>T GRCh37
NC_000002.10:g.21086702A>T NCBI36
NG_011793.1:g.38749T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6543T>A MANE Select ENSP00000233242.1:p.Phe2181Leu
ENST00000616098.4:c.6543T>A ENSP00000477990.1:p.Phe2181Leu
NM_000384.2:c.6543T>A NP_000375.2:p.Phe2181Leu
XM_011532809.1:c.5869+408T>A XP_011531111.1:n.5869+408T>A
NM_000384.3:c.6543T>A MANE Select NP_000375.3:p.Phe2181Leu
Search 100 bp 5'
Search 100 bp 3'