Canonical Allele Identifier: CA764122556

Gene: APOB

Linked Data

• dbSNP Id: rs1169074660
• gnomAD v3: 2-21023522-T-TA
• gnomAD v4: 2-21023522-T-TA
• MyVariant Identifiers: chr2:g.21246394_21246395insA (hg19) ; chr2:g.21023522_21023523insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21023523dup , CM000664.2:g.21023523dup	GRCh38
NC_000002.11:g.21246395dup , CM000664.1:g.21246395dup	GRCh37
NC_000002.10:g.21099900dup	NCBI36
NG_011793.1:g.25551dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1910+2dup	ENSP00000501110.2:n.*1910+2dup
ENST00000673882.2:c.*1910+2dup	ENSP00000501253.2:n.*1910+2dup
ENST00000673739.1:c.2318+2dup	ENSP00000501110.1:n.2318+2dup
ENST00000673882.1:c.2318+2dup	ENSP00000501253.1:n.2318+2dup
ENST00000233242.5:c.2604+2dup MANE Select	ENSP00000233242.1:n.2604+2dup
ENST00000616098.4:c.2604+2dup	ENSP00000477990.1:n.2604+2dup
NM_000384.2:c.2604+2dup	NP_000375.2:n.2604+2dup
XM_011532809.1:c.2604+2dup	XP_011531111.1:n.2604+2dup
NM_000384.3:c.2604+2dup MANE Select	NP_000375.3:n.2604+2dup