Canonical Allele Identifier: CA060158

Gene: APOB

Linked Data

• dbSNP Id: rs759513027
• ExAC: 2:21260978 T / C
• gnomAD v2: 2-21260978-T-C
• gnomAD v4: 2-21038106-T-C
• MyVariant Identifiers: chr2:g.21260978T>C (hg19) ; chr2:g.21038106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038106T>C , CM000664.2:g.21038106T>C	GRCh38
NC_000002.11:g.21260978T>C , CM000664.1:g.21260978T>C	GRCh37
NC_000002.10:g.21114483T>C	NCBI36
NG_011793.1:g.10968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-851A>G	ENSP00000501110.2:n.384-851A>G
ENST00000673882.2:c.384-851A>G	ENSP00000501253.2:n.384-851A>G
ENST00000673739.1:c.252-851A>G	ENSP00000501110.1:n.252-851A>G
ENST00000673882.1:c.252-851A>G	ENSP00000501253.1:n.252-851A>G
ENST00000233242.5:c.389A>G MANE Select	ENSP00000233242.1:p.Glu130Gly
ENST00000399256.4:c.389A>G	ENSP00000382200.4:p.Glu130Gly
ENST00000616098.4:c.389A>G	ENSP00000477990.1:p.Glu130Gly
NM_000384.2:c.389A>G	NP_000375.2:p.Glu130Gly
XM_011532809.1:c.389A>G	XP_011531111.1:p.Glu130Gly
NM_000384.3:c.389A>G MANE Select	NP_000375.3:p.Glu130Gly