Canonical Allele Identifier: CA063048
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 477813
ClinVar RCV Id: RCV000759462 RCV001139843 RCV001837983 RCV002367967 RCV000660694 RCV001139844
dbSNP Id: rs61744855
ExAC: 2:21233479 G / T
gnomAD v2: 2-21233479-G-T
gnomAD v3: 2-21010607-G-T
gnomAD v4: 2-21010607-G-T
MyVariant Identifiers: chr2:g.21233479G>T (hg19) chr2:g.21010607G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010607G>T , CM000664.2:g.21010607G>T GRCh38
NC_000002.11:g.21233479G>T , CM000664.1:g.21233479G>T GRCh37
NC_000002.10:g.21086984G>T NCBI36
NG_011793.1:g.38467C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6261C>A MANE Select ENSP00000233242.1:p.Thr2087=
ENST00000616098.4:c.6261C>A ENSP00000477990.1:p.Thr2087=
NM_000384.2:c.6261C>A NP_000375.2:p.Thr2087=
XM_011532809.1:c.5869+126C>A XP_011531111.1:n.5869+126C>A
NM_000384.3:c.6261C>A MANE Select NP_000375.3:p.Thr2087=
Search 100 bp 5'
Search 100 bp 3'