Canonical Allele Identifier: CA346010940

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21246402C>G (hg19) ; chr2:g.21023530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21023530C>G , CM000664.2:g.21023530C>G	GRCh38
NC_000002.11:g.21246402C>G , CM000664.1:g.21246402C>G	GRCh37
NC_000002.10:g.21099907C>G	NCBI36
NG_011793.1:g.25544G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1905G>C	ENSP00000501110.2:n.*1905G>C
ENST00000673882.2:c.*1905G>C	ENSP00000501253.2:n.*1905G>C
ENST00000673739.1:c.2313G>C	ENSP00000501110.1:n.2313G>C
ENST00000673882.1:c.2313G>C	ENSP00000501253.1:n.2313G>C
ENST00000233242.5:c.2599G>C MANE Select	ENSP00000233242.1:p.Ala867Pro
ENST00000616098.4:c.2599G>C	ENSP00000477990.1:p.Ala867Pro
NM_000384.2:c.2599G>C	NP_000375.2:p.Ala867Pro
XM_011532809.1:c.2599G>C	XP_011531111.1:p.Ala867Pro
NM_000384.3:c.2599G>C MANE Select	NP_000375.3:p.Ala867Pro