Canonical Allele Identifier: CA061905
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2931453
ClinVar RCV Id: RCV003785155
dbSNP Id: rs190134103
ExAC: 2:21260835 A / T
gnomAD v2: 2-21260835-A-T
gnomAD v3: 2-21037963-A-T
gnomAD v4: 2-21037963-A-T
MyVariant Identifiers: chr2:g.21260835A>T (hg19) chr2:g.21037963A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21037963A>T , CM000664.2:g.21037963A>T GRCh38
NC_000002.11:g.21260835A>T , CM000664.1:g.21260835A>T GRCh37
NC_000002.10:g.21114340A>T NCBI36
NG_011793.1:g.11111T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-708T>A ENSP00000501110.2:n.384-708T>A
ENST00000673882.2:c.384-708T>A ENSP00000501253.2:n.384-708T>A
ENST00000673739.1:c.252-708T>A ENSP00000501110.1:n.252-708T>A
ENST00000673882.1:c.252-708T>A ENSP00000501253.1:n.252-708T>A
ENST00000233242.5:c.532T>A MANE Select ENSP00000233242.1:p.Phe178Ile
ENST00000399256.4:c.532T>A ENSP00000382200.4:p.Phe178Ile
ENST00000616098.4:c.532T>A ENSP00000477990.1:p.Phe178Ile
NM_000384.2:c.532T>A NP_000375.2:p.Phe178Ile
XM_011532809.1:c.532T>A XP_011531111.1:p.Phe178Ile
NM_000384.3:c.532T>A MANE Select NP_000375.3:p.Phe178Ile
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