Canonical Allele Identifier: CA063209
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs755046055
ExAC: 2:21233281 T / G
gnomAD v2: 2-21233281-T-G
gnomAD v4: 2-21010409-T-G
MyVariant Identifiers: chr2:g.21233281T>G (hg19) chr2:g.21010409T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010409T>G , CM000664.2:g.21010409T>G GRCh38
NC_000002.11:g.21233281T>G , CM000664.1:g.21233281T>G GRCh37
NC_000002.10:g.21086786T>G NCBI36
NG_011793.1:g.38665A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6459A>C MANE Select ENSP00000233242.1:p.Glu2153Asp
ENST00000616098.4:c.6459A>C ENSP00000477990.1:p.Glu2153Asp
NM_000384.2:c.6459A>C NP_000375.2:p.Glu2153Asp
XM_011532809.1:c.5869+324A>C XP_011531111.1:n.5869+324A>C
NM_000384.3:c.6459A>C MANE Select NP_000375.3:p.Glu2153Asp
Search 100 bp 5'
Search 100 bp 3'