Canonical Allele Identifier: CA063482

Gene: APOB

Linked Data

• ClinVar Variation Id: 862878
• ClinVar RCV Id: RCV001838365 ; RCV004030722
• dbSNP Id: rs780141544
• ExAC: 2:21232994 A / G
• gnomAD v2: 2-21232994-A-G
• gnomAD v4: 2-21010122-A-G
• MyVariant Identifiers: chr2:g.21232994A>G (hg19) ; chr2:g.21010122A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010122A>G , CM000664.2:g.21010122A>G	GRCh38
NC_000002.11:g.21232994A>G , CM000664.1:g.21232994A>G	GRCh37
NC_000002.10:g.21086499A>G	NCBI36
NG_011793.1:g.38952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6746T>C MANE Select	ENSP00000233242.1:p.Ile2249Thr
ENST00000616098.4:c.6746T>C	ENSP00000477990.1:p.Ile2249Thr
NM_000384.2:c.6746T>C	NP_000375.2:p.Ile2249Thr
XM_011532809.1:c.5869+611T>C	XP_011531111.1:n.5869+611T>C
NM_000384.3:c.6746T>C MANE Select	NP_000375.3:p.Ile2249Thr