Canonical Allele Identifier: CA066954

Gene: APOB

Linked Data

• ClinVar Variation Id: 2003729
• ClinVar RCV Id: RCV002811396
• dbSNP Id: rs765577976
• ExAC: 2:21229833 C / G
• gnomAD v2: 2-21229833-C-G
• gnomAD v4: 2-21006961-C-G
• MyVariant Identifiers: chr2:g.21229833C>G (hg19) ; chr2:g.21006961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21006961C>G , CM000664.2:g.21006961C>G	GRCh38
NC_000002.11:g.21229833C>G , CM000664.1:g.21229833C>G	GRCh37
NC_000002.10:g.21083338C>G	NCBI36
NG_011793.1:g.42113G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.9907G>C MANE Select	ENSP00000233242.1:p.Glu3303Gln
ENST00000616098.4:c.9907G>C	ENSP00000477990.1:p.Glu3303Gln
NM_000384.2:c.9907G>C	NP_000375.2:p.Glu3303Gln
XM_011532809.1:c.5869+3772G>C	XP_011531111.1:n.5869+3772G>C
NM_000384.3:c.9907G>C MANE Select	NP_000375.3:p.Glu3303Gln