Canonical Allele Identifier: CA346000747

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21232962T>A (hg19) ; chr2:g.21010090T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010090T>A , CM000664.2:g.21010090T>A	GRCh38
NC_000002.11:g.21232962T>A , CM000664.1:g.21232962T>A	GRCh37
NC_000002.10:g.21086467T>A	NCBI36
NG_011793.1:g.38984A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6778A>T MANE Select	ENSP00000233242.1:p.Ile2260Phe
ENST00000616098.4:c.6778A>T	ENSP00000477990.1:p.Ile2260Phe
NM_000384.2:c.6778A>T	NP_000375.2:p.Ile2260Phe
XM_011532809.1:c.5869+643A>T	XP_011531111.1:n.5869+643A>T
NM_000384.3:c.6778A>T MANE Select	NP_000375.3:p.Ile2260Phe