Canonical Allele Identifier: CA058872
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 928133
ClinVar RCV Id: RCV001859155 RCV002451400
dbSNP Id: rs531341535
ExAC: 2:21238307 A / T
gnomAD v2: 2-21238307-A-T
gnomAD v3: 2-21015435-A-T
gnomAD v4: 2-21015435-A-T
MyVariant Identifiers: chr2:g.21238307A>T (hg19) chr2:g.21015435A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015435A>T , CM000664.2:g.21015435A>T GRCh38
NC_000002.11:g.21238307A>T , CM000664.1:g.21238307A>T GRCh37
NC_000002.10:g.21091812A>T NCBI36
NG_011793.1:g.33639T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2749T>A ENSP00000501110.2:n.*2749T>A
ENST00000673882.2:c.*2538T>A ENSP00000501253.2:n.*2538T>A
ENST00000673739.1:c.3157T>A ENSP00000501110.1:n.3157T>A
ENST00000673882.1:c.2946T>A ENSP00000501253.1:n.2946T>A
ENST00000233242.5:c.3443T>A MANE Select ENSP00000233242.1:p.Leu1148His
ENST00000616098.4:c.3443T>A ENSP00000477990.1:p.Leu1148His
NM_000384.2:c.3443T>A NP_000375.2:p.Leu1148His
XM_011532809.1:c.3443T>A XP_011531111.1:p.Leu1148His
NM_000384.3:c.3443T>A MANE Select NP_000375.3:p.Leu1148His
Search 100 bp 5'
Search 100 bp 3'