Canonical Allele Identifier: CA43488034
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2928124
ClinVar RCV Id: RCV003786946
dbSNP Id: rs765647343
gnomAD v2: 2-21225091-A-G
gnomAD v3: 2-21002219-A-G
gnomAD v4: 2-21002219-A-G
MyVariant Identifiers: chr2:g.21225091A>G (hg19) chr2:g.21002219A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002219A>G , CM000664.2:g.21002219A>G GRCh38
NC_000002.11:g.21225091A>G , CM000664.1:g.21225091A>G GRCh37
NC_000002.10:g.21078596A>G NCBI36
NG_011793.1:g.46855T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.13203T>C MANE Select ENSP00000233242.1:p.Tyr4401=
ENST00000616098.4:c.13201T>C ENSP00000477990.1:n.13201T>C
NM_000384.2:c.13203T>C NP_000375.2:p.Tyr4401=
XM_011532809.1:c.5870-2946T>C XP_011531111.1:n.5870-2946T>C
NM_000384.3:c.13203T>C MANE Select NP_000375.3:p.Tyr4401=
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