Canonical Allele Identifier: CA346000826

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21232996C>A (hg19) ; chr2:g.21010124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21010124C>A , CM000664.2:g.21010124C>A	GRCh38
NC_000002.11:g.21232996C>A , CM000664.1:g.21232996C>A	GRCh37
NC_000002.10:g.21086501C>A	NCBI36
NG_011793.1:g.38950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.6744G>T MANE Select	ENSP00000233242.1:p.Trp2248Cys
ENST00000616098.4:c.6744G>T	ENSP00000477990.1:p.Trp2248Cys
NM_000384.2:c.6744G>T	NP_000375.2:p.Trp2248Cys
XM_011532809.1:c.5869+609G>T	XP_011531111.1:n.5869+609G>T
NM_000384.3:c.6744G>T MANE Select	NP_000375.3:p.Trp2248Cys