Canonical Allele Identifier: CA346001658
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs771904479
gnomAD v4: 2-21010384-C-A
COSMIC: COSM442255
MyVariant Identifiers: chr2:g.21233256C>A (hg19) chr2:g.21010384C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010384C>A , CM000664.2:g.21010384C>A GRCh38
NC_000002.11:g.21233256C>A , CM000664.1:g.21233256C>A GRCh37
NC_000002.10:g.21086761C>A NCBI36
NG_011793.1:g.38690G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6484G>T MANE Select ENSP00000233242.1:p.Asp2162Tyr
ENST00000616098.4:c.6484G>T ENSP00000477990.1:p.Asp2162Tyr
NM_000384.2:c.6484G>T NP_000375.2:p.Asp2162Tyr
XM_011532809.1:c.5869+349G>T XP_011531111.1:n.5869+349G>T
NM_000384.3:c.6484G>T MANE Select NP_000375.3:p.Asp2162Tyr
Search 100 bp 5'
Search 100 bp 3'