Canonical Allele Identifier: CA066976

Gene: APOB

Linked Data

• ClinVar Variation Id: 544104
• ClinVar RCV Id: RCV000655141 ; RCV001838052 ; RCV002386123
• dbSNP Id: rs764448582
• ExAC: 2:21229810 A / G
• gnomAD v2: 2-21229810-A-G
• gnomAD v3: 2-21006938-A-G
• gnomAD v4: 2-21006938-A-G
• MyVariant Identifiers: chr2:g.21229810A>G (hg19) ; chr2:g.21006938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21006938A>G , CM000664.2:g.21006938A>G	GRCh38
NC_000002.11:g.21229810A>G , CM000664.1:g.21229810A>G	GRCh37
NC_000002.10:g.21083315A>G	NCBI36
NG_011793.1:g.42136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.9930T>C MANE Select	ENSP00000233242.1:p.Pro3310=
ENST00000616098.4:c.9930T>C	ENSP00000477990.1:p.Pro3310=
NM_000384.2:c.9930T>C	NP_000375.2:p.Pro3310=
XM_011532809.1:c.5869+3795T>C	XP_011531111.1:n.5869+3795T>C
NM_000384.3:c.9930T>C MANE Select	NP_000375.3:p.Pro3310=