Canonical Allele Identifier: CA425136562

Gene: APOB

Linked Data

• gnomAD v4: 2-21015482-T-C
• COSMIC: COSM1180117
• MyVariant Identifiers: chr2:g.21238354T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015482T>C , CM000664.2:g.21015482T>C	GRCh38
NC_000002.11:g.21238354T>C , CM000664.1:g.21238354T>C	GRCh37
NC_000002.10:g.21091859T>C	NCBI36
NG_011793.1:g.33592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2702A>G	ENSP00000501110.2:n.*2702A>G
ENST00000673882.2:c.*2491A>G	ENSP00000501253.2:n.*2491A>G
ENST00000673739.1:c.3110A>G	ENSP00000501110.1:n.3110A>G
ENST00000673882.1:c.2899A>G	ENSP00000501253.1:n.2899A>G
ENST00000233242.5:c.3396A>G MANE Select	ENSP00000233242.1:p.Glu1132=
ENST00000616098.4:c.3396A>G	ENSP00000477990.1:p.Glu1132=
NM_000384.2:c.3396A>G	NP_000375.2:p.Glu1132=
XM_011532809.1:c.3396A>G	XP_011531111.1:p.Glu1132=
NM_000384.3:c.3396A>G MANE Select	NP_000375.3:p.Glu1132=