Canonical Allele Identifier: CA346000721

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21232951T>A (hg19) ; chr2:g.21010079T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010079T>A , CM000664.2:g.21010079T>A	GRCh38
NC_000002.11:g.21232951T>A , CM000664.1:g.21232951T>A	GRCh37
NC_000002.10:g.21086456T>A	NCBI36
NG_011793.1:g.38995A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6789A>T MANE Select	ENSP00000233242.1:p.Gln2263His
ENST00000616098.4:c.6789A>T	ENSP00000477990.1:p.Gln2263His
NM_000384.2:c.6789A>T	NP_000375.2:p.Gln2263His
XM_011532809.1:c.5869+654A>T	XP_011531111.1:n.5869+654A>T
NM_000384.3:c.6789A>T MANE Select	NP_000375.3:p.Gln2263His