Canonical Allele Identifier: CA060306
Gene: APOB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.21013379G>C
GRCh37 chr2:g.21236251G>C
Revel Score:
ENST00000233242 (MANE Select) 0.052
ENST00000535079 0.052
gnomAD v2:
2:21236251 G / C
gnomAD v3:
2:21013379 G / C
gnomAD v4:
chr2-21013379-G-C
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV002487588
ClinVar Variation:
630135
dbSNP:
121918383
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21013379G>C , CM000664.2:g.21013379G>C GRCh38
NC_000002.11:g.21236251G>C , CM000664.1:g.21236251G>C GRCh37
NC_000002.10:g.21089756G>C NCBI36
NG_011793.1:g.35695C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*3303C>G ENSP00000501110.2:n.*3303C>G
ENST00000673882.2:c.*3092C>G ENSP00000501253.2:n.*3092C>G
ENST00000673739.1:c.3711C>G ENSP00000501110.1:n.3711C>G
ENST00000673882.1:c.3500C>G ENSP00000501253.1:n.3500C>G
ENST00000233242.5:c.3997C>G MANE Select ENSP00000233242.1:p.Arg1333Gly
ENST00000616098.4:c.3997C>G ENSP00000477990.1:p.Arg1333Gly
NM_000384.2:c.3997C>G NP_000375.2:p.Arg1333Gly
XM_011532809.1:c.3997C>G XP_011531111.1:p.Arg1333Gly
NM_000384.3:c.3997C>G MANE Select NP_000375.3:p.Arg1333Gly
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