Canonical Allele Identifier: CA059113
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2020961
ClinVar RCV Id: RCV002866210
dbSNP Id: rs774587292
ExAC: 2:21238139 A / G
gnomAD v2: 2-21238139-A-G
gnomAD v4: 2-21015267-A-G
MyVariant Identifiers: chr2:g.21238139A>G (hg19) chr2:g.21015267A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015267A>G , CM000664.2:g.21015267A>G GRCh38
NC_000002.11:g.21238139A>G , CM000664.1:g.21238139A>G GRCh37
NC_000002.10:g.21091644A>G NCBI36
NG_011793.1:g.33807T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2815-7T>C ENSP00000501110.2:n.*2815-7T>C
ENST00000673882.2:c.*2604-7T>C ENSP00000501253.2:n.*2604-7T>C
ENST00000673739.1:c.3223-7T>C ENSP00000501110.1:n.3223-7T>C
ENST00000673882.1:c.3012-7T>C ENSP00000501253.1:n.3012-7T>C
ENST00000233242.5:c.3509-7T>C MANE Select ENSP00000233242.1:n.3509-7T>C
ENST00000616098.4:c.3509-7T>C ENSP00000477990.1:n.3509-7T>C
NM_000384.2:c.3509-7T>C NP_000375.2:n.3509-7T>C
XM_011532809.1:c.3509-7T>C XP_011531111.1:n.3509-7T>C
NM_000384.3:c.3509-7T>C MANE Select NP_000375.3:n.3509-7T>C
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