Canonical Allele Identifier: CA063423

Gene: APOB

Linked Data

• ClinVar Variation Id: 334130
• ClinVar RCV Id: RCV000308406 ; RCV000363125 ; RCV001837855 ; RCV002365400
• dbSNP Id: rs200106845
• ExAC: 2:21233084 C / T
• gnomAD v2: 2-21233084-C-T
• gnomAD v3: 2-21010212-C-T
• gnomAD v4: 2-21010212-C-T
• COSMIC: COSM3670300
• MyVariant Identifiers: chr2:g.21233084C>T (hg19) ; chr2:g.21010212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010212C>T , CM000664.2:g.21010212C>T	GRCh38
NC_000002.11:g.21233084C>T , CM000664.1:g.21233084C>T	GRCh37
NC_000002.10:g.21086589C>T	NCBI36
NG_011793.1:g.38862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6656G>A MANE Select	ENSP00000233242.1:p.Arg2219His
ENST00000616098.4:c.6656G>A	ENSP00000477990.1:p.Arg2219His
NM_000384.2:c.6656G>A	NP_000375.2:p.Arg2219His
XM_011532809.1:c.5869+521G>A	XP_011531111.1:n.5869+521G>A
NM_000384.3:c.6656G>A MANE Select	NP_000375.3:p.Arg2219His