Canonical Allele Identifier: CA052749

Gene: APOB

Linked Data

• ClinVar Variation Id: 334069
• ClinVar RCV Id: RCV000263137 ; RCV000329926 ; RCV000997041 ; RCV001837828 ; RCV002379223
• dbSNP Id: rs142702699
• ExAC: 2:21224850 T / C
• gnomAD v2: 2-21224850-T-C
• gnomAD v3: 2-21001978-T-C
• gnomAD v4: 2-21001978-T-C
• MyVariant Identifiers: chr2:g.21224850T>C (hg19) ; chr2:g.21001978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001978T>C , CM000664.2:g.21001978T>C	GRCh38
NC_000002.11:g.21224850T>C , CM000664.1:g.21224850T>C	GRCh37
NC_000002.10:g.21078355T>C	NCBI36
NG_011793.1:g.47096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13444A>G MANE Select	ENSP00000233242.1:p.Ile4482Val
ENST00000616098.4:c.13442A>G	ENSP00000477990.1:n.13442A>G
NM_000384.2:c.13444A>G	NP_000375.2:p.Ile4482Val
XM_011532809.1:c.5870-2705A>G	XP_011531111.1:n.5870-2705A>G
NM_000384.3:c.13444A>G MANE Select	NP_000375.3:p.Ile4482Val