Canonical Allele Identifier: CA11003317
Gene: APOB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.21036740A>G
GRCh37 chr2:g.21259612A>G
gnomAD v2:
2:21259612 A / G
gnomAD v3:
2:21036740 A / G
gnomAD v4:
chr2-21036740-A-G
Joint Max Group AF 0.83362998 (EAS)
Genomes Max Group AF 0.83362998 (EAS)
ClinVar RCV:
RCV002089141
ClinVar Variation:
1619823
dbSNP:
520354
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21036740A>G , CM000664.2:g.21036740A>G GRCh38
NC_000002.11:g.21259612A>G , CM000664.1:g.21259612A>G GRCh37
NC_000002.10:g.21113117A>G NCBI36
NG_011793.1:g.12334T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.539+360T>C ENSP00000501110.2:n.539+360T>C
ENST00000673882.2:c.539+360T>C ENSP00000501253.2:n.539+360T>C
ENST00000673739.1:c.407+360T>C ENSP00000501110.1:n.407+360T>C
ENST00000673882.1:c.407+360T>C ENSP00000501253.1:n.407+360T>C
ENST00000233242.5:c.693+360T>C MANE Select ENSP00000233242.1:n.693+360T>C
ENST00000399256.4:c.693+360T>C ENSP00000382200.4:n.693+360T>C
ENST00000616098.4:c.693+360T>C ENSP00000477990.1:n.693+360T>C
NM_000384.2:c.693+360T>C NP_000375.2:n.693+360T>C
XM_011532809.1:c.693+360T>C XP_011531111.1:n.693+360T>C
NM_000384.3:c.693+360T>C MANE Select NP_000375.3:n.693+360T>C
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