Canonical Allele Identifier: CA346000696

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21232939C>G (hg19) ; chr2:g.21010067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010067C>G , CM000664.2:g.21010067C>G	GRCh38
NC_000002.11:g.21232939C>G , CM000664.1:g.21232939C>G	GRCh37
NC_000002.10:g.21086444C>G	NCBI36
NG_011793.1:g.39007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6801G>C MANE Select	ENSP00000233242.1:p.Gln2267His
ENST00000616098.4:c.6801G>C	ENSP00000477990.1:p.Gln2267His
NM_000384.2:c.6801G>C	NP_000375.2:p.Gln2267His
XM_011532809.1:c.5869+666G>C	XP_011531111.1:n.5869+666G>C
NM_000384.3:c.6801G>C MANE Select	NP_000375.3:p.Gln2267His