Canonical Allele Identifier: CA10612276

Gene: APOB

Linked Data

• ClinVar Variation Id: 334057
• ClinVar RCV Id: RCV000268318 ; RCV000379186 ; RCV002521382
• dbSNP Id: rs72654430
• gnomAD v2: 2-21224373-T-C
• gnomAD v3: 2-21001501-T-C
• gnomAD v4: 2-21001501-T-C
• MyVariant Identifiers: chr2:g.21224373T>C (hg19) ; chr2:g.21001501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001501T>C , CM000664.2:g.21001501T>C	GRCh38
NC_000002.11:g.21224373T>C , CM000664.1:g.21224373T>C	GRCh37
NC_000002.10:g.21077878T>C	NCBI36
NG_011793.1:g.47573A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.*229A>G MANE Select	ENSP00000233242.1:n.*229A>G
ENST00000616098.4:c.13919A>G	ENSP00000477990.1:n.13919A>G
NM_000384.2:c.*229A>G	NP_000375.2:n.*229A>G
XM_011532809.1:c.5870-2228A>G	XP_011531111.1:n.5870-2228A>G
NM_000384.3:c.*229A>G MANE Select	NP_000375.3:n.*229A>G