Canonical Allele Identifier: CA064294

Gene: APOB

Linked Data

• ClinVar Variation Id: 1758133
• ClinVar RCV Id: RCV002382708 ; RCV003776372
• dbSNP Id: rs747588681
• ExAC: 2:21232442 T / A
• gnomAD v2: 2-21232442-T-A
• gnomAD v3: 2-21009570-T-A
• gnomAD v4: 2-21009570-T-A
• MyVariant Identifiers: chr2:g.21232442T>A (hg19) ; chr2:g.21009570T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21009570T>A , CM000664.2:g.21009570T>A	GRCh38
NC_000002.11:g.21232442T>A , CM000664.1:g.21232442T>A	GRCh37
NC_000002.10:g.21085947T>A	NCBI36
NG_011793.1:g.39504A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.7298A>T MANE Select	ENSP00000233242.1:p.His2433Leu
ENST00000616098.4:c.7298A>T	ENSP00000477990.1:p.His2433Leu
NM_000384.2:c.7298A>T	NP_000375.2:p.His2433Leu
XM_011532809.1:c.5869+1163A>T	XP_011531111.1:n.5869+1163A>T
NM_000384.3:c.7298A>T MANE Select	NP_000375.3:p.His2433Leu