Canonical Allele Identifier: CA066918

Gene: APOB

Linked Data

• ClinVar Variation Id: 927812
• ClinVar RCV Id: RCV002379738 ; RCV002560109
• dbSNP Id: rs772993823
• ExAC: 2:21229872 C / T
• gnomAD v2: 2-21229872-C-T
• gnomAD v3: 2-21007000-C-T
• gnomAD v4: 2-21007000-C-T
• COSMIC: COSM84579
• MyVariant Identifiers: chr2:g.21229872C>T (hg19) ; chr2:g.21007000C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21007000C>T , CM000664.2:g.21007000C>T	GRCh38
NC_000002.11:g.21229872C>T , CM000664.1:g.21229872C>T	GRCh37
NC_000002.10:g.21083377C>T	NCBI36
NG_011793.1:g.42074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.9868G>A MANE Select	ENSP00000233242.1:p.Val3290Ile
ENST00000616098.4:c.9868G>A	ENSP00000477990.1:p.Val3290Ile
NM_000384.2:c.9868G>A	NP_000375.2:p.Val3290Ile
XM_011532809.1:c.5869+3733G>A	XP_011531111.1:n.5869+3733G>A
NM_000384.3:c.9868G>A MANE Select	NP_000375.3:p.Val3290Ile