Canonical Allele Identifier: CA066938
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 334108
ClinVar RCV Id: RCV000314783 RCV000403486 RCV000460224 RCV001837845 RCV002379226 RCV001094690
dbSNP Id: rs186299244
ExAC: 2:21229857 A / G
gnomAD v2: 2-21229857-A-G
gnomAD v3: 2-21006985-A-G
gnomAD v4: 2-21006985-A-G
MyVariant Identifiers: chr2:g.21229857A>G (hg19) chr2:g.21006985A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006985A>G , CM000664.2:g.21006985A>G GRCh38
NC_000002.11:g.21229857A>G , CM000664.1:g.21229857A>G GRCh37
NC_000002.10:g.21083362A>G NCBI36
NG_011793.1:g.42089T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9883T>C MANE Select ENSP00000233242.1:p.Tyr3295His
ENST00000616098.4:c.9883T>C ENSP00000477990.1:p.Tyr3295His
NM_000384.2:c.9883T>C NP_000375.2:p.Tyr3295His
XM_011532809.1:c.5869+3748T>C XP_011531111.1:n.5869+3748T>C
NM_000384.3:c.9883T>C MANE Select NP_000375.3:p.Tyr3295His
Search 100 bp 5'
Search 100 bp 3'