Canonical Allele Identifier: CA062216

Gene: APOB

Linked Data

• ClinVar Variation Id: 548058
• ClinVar RCV Id: RCV000660689 ; RCV002343407 ; RCV002499138
• dbSNP Id: rs138005301
• ExAC: 2:21234180 C / T
• gnomAD v2: 2-21234180-C-T
• gnomAD v3: 2-21011308-C-T
• gnomAD v4: 2-21011308-C-T
• MyVariant Identifiers: chr2:g.21234180C>T (hg19) ; chr2:g.21011308C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21011308C>T , CM000664.2:g.21011308C>T	GRCh38
NC_000002.11:g.21234180C>T , CM000664.1:g.21234180C>T	GRCh37
NC_000002.10:g.21087685C>T	NCBI36
NG_011793.1:g.37766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.5560G>A MANE Select	ENSP00000233242.1:p.Asp1854Asn
ENST00000616098.4:c.5560G>A	ENSP00000477990.1:p.Asp1854Asn
NM_000384.2:c.5560G>A	NP_000375.2:p.Asp1854Asn
XM_011532809.1:c.5560G>A	XP_011531111.1:p.Asp1854Asn
NM_000384.3:c.5560G>A MANE Select	NP_000375.3:p.Asp1854Asn