Canonical Allele Identifier: CA063588

Gene: APOB

Linked Data

• ClinVar Variation Id: 1129772
• ClinVar RCV Id: RCV001837509 ; RCV002368417
• dbSNP Id: rs762256882
• ExAC: 2:21232918 C / T
• gnomAD v2: 2-21232918-C-T
• gnomAD v4: 2-21010046-C-T
• MyVariant Identifiers: chr2:g.21232918C>T (hg19) ; chr2:g.21010046C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010046C>T , CM000664.2:g.21010046C>T	GRCh38
NC_000002.11:g.21232918C>T , CM000664.1:g.21232918C>T	GRCh37
NC_000002.10:g.21086423C>T	NCBI36
NG_011793.1:g.39028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6822G>A MANE Select	ENSP00000233242.1:p.Gln2274=
ENST00000616098.4:c.6822G>A	ENSP00000477990.1:p.Gln2274=
NM_000384.2:c.6822G>A	NP_000375.2:p.Gln2274=
XM_011532809.1:c.5869+687G>A	XP_011531111.1:n.5869+687G>A
NM_000384.3:c.6822G>A MANE Select	NP_000375.3:p.Gln2274=