Canonical Allele Identifier: CA10588892

Gene: APOB

Linked Data

• ClinVar Variation Id: 265871
• ClinVar RCV Id: RCV000256258 ; RCV001094609
• dbSNP Id: rs1800480
• gnomAD v2: 2-21266932-G-C
• gnomAD v3: 2-21044060-G-C
• gnomAD v4: 2-21044060-G-C
• MyVariant Identifiers: chr2:g.21266932G>C (hg19) ; chr2:g.21044060G>C (hg38)
• PubMed: PMID:22095935

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21044060G>C , CM000664.2:g.21044060G>C	GRCh38
NC_000002.11:g.21266932G>C , CM000664.1:g.21266932G>C	GRCh37
NC_000002.10:g.21120437G>C	NCBI36
NG_011793.1:g.5014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.-115C>G	ENSP00000501110.2:n.-115C>G
ENST00000673882.2:c.-115C>G	ENSP00000501253.2:n.-115C>G
ENST00000233242.5:c.-115C>G MANE Select	ENSP00000233242.1:n.-115C>G
NM_000384.2:c.-115C>G	NP_000375.2:n.-115C>G
XM_011532809.1:c.-115C>G	XP_011531111.1:n.-115C>G
NM_000384.3:c.-115C>G MANE Select	NP_000375.3:n.-115C>G