Canonical Allele Identifier: CA052106

Gene: APOB

Linked Data

• ClinVar Variation Id: 920522
• ClinVar RCV Id: RCV002379691 ; RCV002558906
• dbSNP Id: rs765917049
• ExAC: 2:21225112 A / G
• gnomAD v2: 2-21225112-A-G
• gnomAD v3: 2-21002240-A-G
• gnomAD v4: 2-21002240-A-G
• MyVariant Identifiers: chr2:g.21225112A>G (hg19) ; chr2:g.21002240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002240A>G , CM000664.2:g.21002240A>G	GRCh38
NC_000002.11:g.21225112A>G , CM000664.1:g.21225112A>G	GRCh37
NC_000002.10:g.21078617A>G	NCBI36
NG_011793.1:g.46834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13182T>C MANE Select	ENSP00000233242.1:p.Val4394=
ENST00000616098.4:c.13180T>C	ENSP00000477990.1:n.13180T>C
NM_000384.2:c.13182T>C	NP_000375.2:p.Val4394=
XM_011532809.1:c.5870-2967T>C	XP_011531111.1:n.5870-2967T>C
NM_000384.3:c.13182T>C MANE Select	NP_000375.3:p.Val4394=