Canonical Allele Identifier: CA425136546

Gene: APOB

Linked Data

• ClinVar Variation Id: 2940569
• ClinVar RCV Id: RCV003799879
• MyVariant Identifiers: chr2:g.21238321A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015449A>G , CM000664.2:g.21015449A>G	GRCh38
NC_000002.11:g.21238321A>G , CM000664.1:g.21238321A>G	GRCh37
NC_000002.10:g.21091826A>G	NCBI36
NG_011793.1:g.33625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2735T>C	ENSP00000501110.2:n.*2735T>C
ENST00000673882.2:c.*2524T>C	ENSP00000501253.2:n.*2524T>C
ENST00000673739.1:c.3143T>C	ENSP00000501110.1:n.3143T>C
ENST00000673882.1:c.2932T>C	ENSP00000501253.1:n.2932T>C
ENST00000233242.5:c.3429T>C MANE Select	ENSP00000233242.1:p.Pro1143=
ENST00000616098.4:c.3429T>C	ENSP00000477990.1:p.Pro1143=
NM_000384.2:c.3429T>C	NP_000375.2:p.Pro1143=
XM_011532809.1:c.3429T>C	XP_011531111.1:p.Pro1143=
NM_000384.3:c.3429T>C MANE Select	NP_000375.3:p.Pro1143=