Canonical Allele Identifier: CA061468

Gene: APOB

Linked Data

• dbSNP Id: rs766135749
• ExAC: 2:21260869 A / C
• gnomAD v2: 2-21260869-A-C
• gnomAD v4: 2-21037997-A-C
• MyVariant Identifiers: chr2:g.21260869A>C (hg19) ; chr2:g.21037997A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21037997A>C , CM000664.2:g.21037997A>C	GRCh38
NC_000002.11:g.21260869A>C , CM000664.1:g.21260869A>C	GRCh37
NC_000002.10:g.21114374A>C	NCBI36
NG_011793.1:g.11077T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-742T>G	ENSP00000501110.2:n.384-742T>G
ENST00000673882.2:c.384-742T>G	ENSP00000501253.2:n.384-742T>G
ENST00000673739.1:c.252-742T>G	ENSP00000501110.1:n.252-742T>G
ENST00000673882.1:c.252-742T>G	ENSP00000501253.1:n.252-742T>G
ENST00000233242.5:c.498T>G MANE Select	ENSP00000233242.1:p.Val166=
ENST00000399256.4:c.498T>G	ENSP00000382200.4:p.Val166=
ENST00000616098.4:c.498T>G	ENSP00000477990.1:p.Val166=
NM_000384.2:c.498T>G	NP_000375.2:p.Val166=
XM_011532809.1:c.498T>G	XP_011531111.1:p.Val166=
NM_000384.3:c.498T>G MANE Select	NP_000375.3:p.Val166=