Canonical Allele Identifier: CA062698

Gene: APOB

Linked Data

• ClinVar Variation Id: 918750
• ClinVar RCV Id: RCV001875817 ; RCV003293923
• dbSNP Id: rs752203499
• ExAC: 2:21233750 T / C
• gnomAD v2: 2-21233750-T-C
• gnomAD v3: 2-21010878-T-C
• gnomAD v4: 2-21010878-T-C
• MyVariant Identifiers: chr2:g.21233750T>C (hg19) ; chr2:g.21010878T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010878T>C , CM000664.2:g.21010878T>C	GRCh38
NC_000002.11:g.21233750T>C , CM000664.1:g.21233750T>C	GRCh37
NC_000002.10:g.21087255T>C	NCBI36
NG_011793.1:g.38196A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.5990A>G MANE Select	ENSP00000233242.1:p.Asp1997Gly
ENST00000616098.4:c.5990A>G	ENSP00000477990.1:p.Asp1997Gly
NM_000384.2:c.5990A>G	NP_000375.2:p.Asp1997Gly
XM_011532809.1:c.5864+126A>G	XP_011531111.1:n.5864+126A>G
NM_000384.3:c.5990A>G MANE Select	NP_000375.3:p.Asp1997Gly