Canonical Allele Identifier: CA058799

Gene: APOB

Linked Data

• dbSNP Id: rs557767875
• ExAC: 2:21238331 T / C
• gnomAD v2: 2-21238331-T-C
• gnomAD v3: 2-21015459-T-C
• gnomAD v4: 2-21015459-T-C
• MyVariant Identifiers: chr2:g.21238331T>C (hg19) ; chr2:g.21015459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015459T>C , CM000664.2:g.21015459T>C	GRCh38
NC_000002.11:g.21238331T>C , CM000664.1:g.21238331T>C	GRCh37
NC_000002.10:g.21091836T>C	NCBI36
NG_011793.1:g.33615A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2725A>G	ENSP00000501110.2:n.*2725A>G
ENST00000673882.2:c.*2514A>G	ENSP00000501253.2:n.*2514A>G
ENST00000673739.1:c.3133A>G	ENSP00000501110.1:n.3133A>G
ENST00000673882.1:c.2922A>G	ENSP00000501253.1:n.2922A>G
ENST00000233242.5:c.3419A>G MANE Select	ENSP00000233242.1:p.His1140Arg
ENST00000616098.4:c.3419A>G	ENSP00000477990.1:p.His1140Arg
NM_000384.2:c.3419A>G	NP_000375.2:p.His1140Arg
XM_011532809.1:c.3419A>G	XP_011531111.1:p.His1140Arg
NM_000384.3:c.3419A>G MANE Select	NP_000375.3:p.His1140Arg