Canonical Allele Identifier: CA022919
Gene: APOB HGNC NCBI
ClinVar RCV:
RCV000019484
RCV001027451
RCV001837439
ClinVar Variation:
17895
COSMIC:
COSM1015932
dbSNP:
121918390
gnomAD v2:
2:21232176 G / A
gnomAD v3:
2:21009304 G / A
gnomAD v4:
chr2-21009304-G-A
Joint Max Group AF 0.00002555 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000254 (NFE)
MyVariant.info:
GRCh38 chr2:g.21009304G>A
GRCh37 chr2:g.21232176G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009304G>A , CM000664.2:g.21009304G>A GRCh38
NC_000002.11:g.21232176G>A , CM000664.1:g.21232176G>A GRCh37
NC_000002.10:g.21085681G>A NCBI36
NG_011793.1:g.39770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7564C>T MANE Select ENSP00000233242.1:p.Arg2522Ter
ENST00000616098.4:c.7564C>T ENSP00000477990.1:p.Arg2522Ter
NM_000384.2:c.7564C>T NP_000375.2:p.Arg2522Ter
XM_011532809.1:c.5869+1429C>T XP_011531111.1:n.5869+1429C>T
NM_000384.3:c.7564C>T MANE Select NP_000375.3:p.Arg2522Ter
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