Canonical Allele Identifier: CA065935

Gene: APOB

Linked Data

• ClinVar Variation Id: 490402
• ClinVar RCV Id: RCV000775483 ; RCV002377202 ; RCV001838002 ; RCV003478309
• dbSNP Id: rs751437976
• ExAC: 2:21231020 C / T
• gnomAD v2: 2-21231020-C-T
• gnomAD v3: 2-21008148-C-T
• gnomAD v4: 2-21008148-C-T
• MyVariant Identifiers: chr2:g.21231020C>T (hg19) ; chr2:g.21008148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21008148C>T , CM000664.2:g.21008148C>T	GRCh38
NC_000002.11:g.21231020C>T , CM000664.1:g.21231020C>T	GRCh37
NC_000002.10:g.21084525C>T	NCBI36
NG_011793.1:g.40926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.8720G>A MANE Select	ENSP00000233242.1:p.Arg2907His
ENST00000616098.4:c.8720G>A	ENSP00000477990.1:p.Arg2907His
NM_000384.2:c.8720G>A	NP_000375.2:p.Arg2907His
XM_011532809.1:c.5869+2585G>A	XP_011531111.1:n.5869+2585G>A
NM_000384.3:c.8720G>A MANE Select	NP_000375.3:p.Arg2907His