Canonical Allele Identifier: CA346003777
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1355430
ClinVar RCV Id: RCV001866917
dbSNP Id: rs1288960248
gnomAD v2: 2-21233861-A-G
gnomAD v4: 2-21010989-A-G
MyVariant Identifiers: chr2:g.21233861A>G (hg19) chr2:g.21010989A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010989A>G , CM000664.2:g.21010989A>G GRCh38
NC_000002.11:g.21233861A>G , CM000664.1:g.21233861A>G GRCh37
NC_000002.10:g.21087366A>G NCBI36
NG_011793.1:g.38085T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5879T>C MANE Select ENSP00000233242.1:p.Ile1960Thr
ENST00000616098.4:c.5879T>C ENSP00000477990.1:p.Ile1960Thr
NM_000384.2:c.5879T>C NP_000375.2:p.Ile1960Thr
XM_011532809.1:c.5864+15T>C XP_011531111.1:n.5864+15T>C
NM_000384.3:c.5879T>C MANE Select NP_000375.3:p.Ile1960Thr
Search 100 bp 5'
Search 100 bp 3'