Canonical Allele Identifier: CA056575

Gene: APOB

Linked Data

• dbSNP Id: rs771752683
• ExAC: 2:21246502 C / T
• gnomAD v2: 2-21246502-C-T
• gnomAD v4: 2-21023630-C-T
• MyVariant Identifiers: chr2:g.21246502C>T (hg19) ; chr2:g.21023630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21023630C>T , CM000664.2:g.21023630C>T	GRCh38
NC_000002.11:g.21246502C>T , CM000664.1:g.21246502C>T	GRCh37
NC_000002.10:g.21100007C>T	NCBI36
NG_011793.1:g.25444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1805G>A	ENSP00000501110.2:n.*1805G>A
ENST00000673882.2:c.*1805G>A	ENSP00000501253.2:n.*1805G>A
ENST00000673739.1:c.2213G>A	ENSP00000501110.1:n.2213G>A
ENST00000673882.1:c.2213G>A	ENSP00000501253.1:n.2213G>A
ENST00000233242.5:c.2499G>A MANE Select	ENSP00000233242.1:p.Glu833=
ENST00000616098.4:c.2499G>A	ENSP00000477990.1:p.Glu833=
NM_000384.2:c.2499G>A	NP_000375.2:p.Glu833=
XM_011532809.1:c.2499G>A	XP_011531111.1:p.Glu833=
NM_000384.3:c.2499G>A MANE Select	NP_000375.3:p.Glu833=