Canonical Allele Identifier: CA345970677

Gene: APOB

Linked Data

• ClinVar Variation Id: 628375
• ClinVar RCV Id: RCV001255937 ; RCV003147546 ; RCV003147545 ; RCV002534034
• dbSNP Id: rs1466172660
• gnomAD v2: 2-21225598-A-T
• gnomAD v3: 2-21002726-A-T
• gnomAD v4: 2-21002726-A-T
• MyVariant Identifiers: chr2:g.21225598A>T (hg19) ; chr2:g.21002726A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002726A>T , CM000664.2:g.21002726A>T	GRCh38
NC_000002.11:g.21225598A>T , CM000664.1:g.21225598A>T	GRCh37
NC_000002.10:g.21079103A>T	NCBI36
NG_011793.1:g.46348T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.12696T>A MANE Select	ENSP00000233242.1:p.Tyr4232Ter
ENST00000616098.4:c.12696T>A	ENSP00000477990.1:p.Tyr4232Ter
NM_000384.2:c.12696T>A	NP_000375.2:p.Tyr4232Ter
XM_011532809.1:c.5870-3453T>A	XP_011531111.1:n.5870-3453T>A
NM_000384.3:c.12696T>A MANE Select	NP_000375.3:p.Tyr4232Ter