Canonical Allele Identifier: CA058774

Gene: APOB

Linked Data

• ClinVar Variation Id: 630323
• ClinVar RCV Id: RCV001838183 ; RCV002458386
• dbSNP Id: rs140456702
• ExAC: 2:21238336 G / A
• gnomAD v2: 2-21238336-G-A
• gnomAD v3: 2-21015464-G-A
• gnomAD v4: 2-21015464-G-A
• COSMIC: COSM1565109
• MyVariant Identifiers: chr2:g.21238336G>A (hg19) ; chr2:g.21015464G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015464G>A , CM000664.2:g.21015464G>A	GRCh38
NC_000002.11:g.21238336G>A , CM000664.1:g.21238336G>A	GRCh37
NC_000002.10:g.21091841G>A	NCBI36
NG_011793.1:g.33610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2720C>T	ENSP00000501110.2:n.*2720C>T
ENST00000673882.2:c.*2509C>T	ENSP00000501253.2:n.*2509C>T
ENST00000673739.1:c.3128C>T	ENSP00000501110.1:n.3128C>T
ENST00000673882.1:c.2917C>T	ENSP00000501253.1:n.2917C>T
ENST00000233242.5:c.3414C>T MANE Select	ENSP00000233242.1:p.Leu1138=
ENST00000616098.4:c.3414C>T	ENSP00000477990.1:p.Leu1138=
NM_000384.2:c.3414C>T	NP_000375.2:p.Leu1138=
XM_011532809.1:c.3414C>T	XP_011531111.1:p.Leu1138=
NM_000384.3:c.3414C>T MANE Select	NP_000375.3:p.Leu1138=