Canonical Allele Identifier: CA066938

Gene: APOB

Linked Data

• ClinVar Variation Id: 334108
• ClinVar RCV Id: RCV000314783 ; RCV000403486 ; RCV000460224 ; RCV001837845 ; RCV002379226 ; RCV001094690
• dbSNP Id: rs186299244
• ExAC: 2:21229857 A / G
• gnomAD v2: 2-21229857-A-G
• gnomAD v3: 2-21006985-A-G
• gnomAD v4: 2-21006985-A-G
• MyVariant Identifiers: chr2:g.21229857A>G (hg19) ; chr2:g.21006985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21006985A>G , CM000664.2:g.21006985A>G	GRCh38
NC_000002.11:g.21229857A>G , CM000664.1:g.21229857A>G	GRCh37
NC_000002.10:g.21083362A>G	NCBI36
NG_011793.1:g.42089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.9883T>C MANE Select	ENSP00000233242.1:p.Tyr3295His
ENST00000616098.4:c.9883T>C	ENSP00000477990.1:p.Tyr3295His
NM_000384.2:c.9883T>C	NP_000375.2:p.Tyr3295His
XM_011532809.1:c.5869+3748T>C	XP_011531111.1:n.5869+3748T>C
NM_000384.3:c.9883T>C MANE Select	NP_000375.3:p.Tyr3295His