Canonical Allele Identifier: CA346000754

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21232964C>T (hg19) ; chr2:g.21010092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010092C>T , CM000664.2:g.21010092C>T	GRCh38
NC_000002.11:g.21232964C>T , CM000664.1:g.21232964C>T	GRCh37
NC_000002.10:g.21086469C>T	NCBI36
NG_011793.1:g.38982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6776G>A MANE Select	ENSP00000233242.1:p.Arg2259Lys
ENST00000616098.4:c.6776G>A	ENSP00000477990.1:p.Arg2259Lys
NM_000384.2:c.6776G>A	NP_000375.2:p.Arg2259Lys
XM_011532809.1:c.5869+641G>A	XP_011531111.1:n.5869+641G>A
NM_000384.3:c.6776G>A MANE Select	NP_000375.3:p.Arg2259Lys