Canonical Allele Identifier: CA064348

Gene: APOB

Linked Data

• ClinVar Variation Id: 255987
• ClinVar RCV Id: RCV000244945 ; RCV000281029 ; RCV000423058 ; RCV001094685 ; RCV001837806 ; RCV002379075
• dbSNP Id: rs12713675
• ExAC: 2:21232373 G / T
• gnomAD v2: 2-21232373-G-T
• gnomAD v3: 2-21009501-G-T
• gnomAD v4: 2-21009501-G-T
• MyVariant Identifiers: chr2:g.21232373G>T (hg19) ; chr2:g.21009501G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21009501G>T , CM000664.2:g.21009501G>T	GRCh38
NC_000002.11:g.21232373G>T , CM000664.1:g.21232373G>T	GRCh37
NC_000002.10:g.21085878G>T	NCBI36
NG_011793.1:g.39573C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.7367C>A MANE Select	ENSP00000233242.1:p.Ala2456Asp
ENST00000616098.4:c.7367C>A	ENSP00000477990.1:p.Ala2456Asp
NM_000384.2:c.7367C>A	NP_000375.2:p.Ala2456Asp
XM_011532809.1:c.5869+1232C>A	XP_011531111.1:n.5869+1232C>A
NM_000384.3:c.7367C>A MANE Select	NP_000375.3:p.Ala2456Asp