Canonical Allele Identifier: CA345997426

Gene: APOB

Linked Data

• COSMIC: COSM3577225
• MyVariant Identifiers: chr2:g.21232428C>T (hg19) ; chr2:g.21009556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21009556C>T , CM000664.2:g.21009556C>T	GRCh38
NC_000002.11:g.21232428C>T , CM000664.1:g.21232428C>T	GRCh37
NC_000002.10:g.21085933C>T	NCBI36
NG_011793.1:g.39518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.7312G>A MANE Select	ENSP00000233242.1:p.Glu2438Lys
ENST00000616098.4:c.7312G>A	ENSP00000477990.1:p.Glu2438Lys
NM_000384.2:c.7312G>A	NP_000375.2:p.Glu2438Lys
XM_011532809.1:c.5869+1177G>A	XP_011531111.1:n.5869+1177G>A
NM_000384.3:c.7312G>A MANE Select	NP_000375.3:p.Glu2438Lys