Canonical Allele Identifier: CA43505280
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1539834
ClinVar RCV Id: RCV002169709
dbSNP Id: rs767577474
gnomAD v4: 2-21010382-A-G
MyVariant Identifiers: chr2:g.21233254A>G (hg19) chr2:g.21010382A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010382A>G , CM000664.2:g.21010382A>G GRCh38
NC_000002.11:g.21233254A>G , CM000664.1:g.21233254A>G GRCh37
NC_000002.10:g.21086759A>G NCBI36
NG_011793.1:g.38692T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6486T>C MANE Select ENSP00000233242.1:p.Asp2162=
ENST00000616098.4:c.6486T>C ENSP00000477990.1:p.Asp2162=
NM_000384.2:c.6486T>C NP_000375.2:p.Asp2162=
XM_011532809.1:c.5869+351T>C XP_011531111.1:n.5869+351T>C
NM_000384.3:c.6486T>C MANE Select NP_000375.3:p.Asp2162=
Search 100 bp 5'
Search 100 bp 3'