Canonical Allele Identifier: CA064481
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 69511
ClinVar RCV Id: RCV001837448
dbSNP Id: rs146538280
ExAC: 2:21232203 G / A
gnomAD v2: 2-21232203-G-A
gnomAD v3: 2-21009331-G-A
gnomAD v4: 2-21009331-G-A
COSMIC: COSM107090
MyVariant Identifiers: chr2:g.21232203G>A (hg19) chr2:g.21009331G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009331G>A , CM000664.2:g.21009331G>A GRCh38
NC_000002.11:g.21232203G>A , CM000664.1:g.21232203G>A GRCh37
NC_000002.10:g.21085708G>A NCBI36
NG_011793.1:g.39743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7537C>T MANE Select ENSP00000233242.1:p.Arg2513Ter
ENST00000616098.4:c.7537C>T ENSP00000477990.1:p.Arg2513Ter
NM_000384.2:c.7537C>T NP_000375.2:p.Arg2513Ter
XM_011532809.1:c.5869+1402C>T XP_011531111.1:n.5869+1402C>T
NM_000384.3:c.7537C>T MANE Select NP_000375.3:p.Arg2513Ter
Search 100 bp 5'
Search 100 bp 3'