Canonical Allele Identifier: CA060201

Gene: APOB

Linked Data

• dbSNP Id: rs774114263
• ExAC: 2:21260977 C / T
• gnomAD v2: 2-21260977-C-T
• gnomAD v4: 2-21038105-C-T
• MyVariant Identifiers: chr2:g.21260977C>T (hg19) ; chr2:g.21038105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038105C>T , CM000664.2:g.21038105C>T	GRCh38
NC_000002.11:g.21260977C>T , CM000664.1:g.21260977C>T	GRCh37
NC_000002.10:g.21114482C>T	NCBI36
NG_011793.1:g.10969G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.384-850G>A	ENSP00000501110.2:n.384-850G>A
ENST00000673882.2:c.384-850G>A	ENSP00000501253.2:n.384-850G>A
ENST00000673739.1:c.252-850G>A	ENSP00000501110.1:n.252-850G>A
ENST00000673882.1:c.252-850G>A	ENSP00000501253.1:n.252-850G>A
ENST00000233242.5:c.390G>A MANE Select	ENSP00000233242.1:p.Glu130=
ENST00000399256.4:c.390G>A	ENSP00000382200.4:p.Glu130=
ENST00000616098.4:c.390G>A	ENSP00000477990.1:p.Glu130=
NM_000384.2:c.390G>A	NP_000375.2:p.Glu130=
XM_011532809.1:c.390G>A	XP_011531111.1:p.Glu130=
NM_000384.3:c.390G>A MANE Select	NP_000375.3:p.Glu130=