Canonical Allele Identifier: CA053475

Gene: APOB

Linked Data

• ClinVar Variation Id: 2923518
• ClinVar RCV Id: RCV003783076
• dbSNP Id: rs749915303
• ExAC: 2:21224615 G / T
• gnomAD v2: 2-21224615-G-T
• gnomAD v3: 2-21001743-G-T
• gnomAD v4: 2-21001743-G-T
• MyVariant Identifiers: chr2:g.21224615G>T (hg19) ; chr2:g.21001743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001743G>T , CM000664.2:g.21001743G>T	GRCh38
NC_000002.11:g.21224615G>T , CM000664.1:g.21224615G>T	GRCh37
NC_000002.10:g.21078120G>T	NCBI36
NG_011793.1:g.47331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13679C>A MANE Select	ENSP00000233242.1:p.Thr4560Asn
ENST00000616098.4:c.13677C>A	ENSP00000477990.1:n.13677C>A
NM_000384.2:c.13679C>A	NP_000375.2:p.Thr4560Asn
XM_011532809.1:c.5870-2470C>A	XP_011531111.1:n.5870-2470C>A
NM_000384.3:c.13679C>A MANE Select	NP_000375.3:p.Thr4560Asn