Canonical Allele Identifier: CA047416
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 490381
ClinVar RCV Id: RCV002060572
dbSNP Id: rs139704306
ExAC: 2:21227936 G / A
gnomAD v2: 2-21227936-G-A
gnomAD v3: 2-21005064-G-A
gnomAD v4: 2-21005064-G-A
MyVariant Identifiers: chr2:g.21227936G>A (hg19) chr2:g.21005064G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21005064G>A , CM000664.2:g.21005064G>A GRCh38
NC_000002.11:g.21227936G>A , CM000664.1:g.21227936G>A GRCh37
NC_000002.10:g.21081441G>A NCBI36
NG_011793.1:g.44010C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.11788+16C>T MANE Select ENSP00000233242.1:n.11788+16C>T
ENST00000616098.4:c.11788+16C>T ENSP00000477990.1:n.11788+16C>T
NM_000384.2:c.11788+16C>T NP_000375.2:n.11788+16C>T
XM_011532809.1:c.5869+5669C>T XP_011531111.1:n.5869+5669C>T
NM_000384.3:c.11788+16C>T MANE Select NP_000375.3:n.11788+16C>T
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