Canonical Allele Identifier: CA058981

Gene: APOB

Linked Data

• ClinVar Variation Id: 627781
• ClinVar RCV Id: RCV002500997
• dbSNP Id: rs371596170
• ExAC: 2:21238228 G / A
• gnomAD v2: 2-21238228-G-A
• gnomAD v3: 2-21015356-G-A
• gnomAD v4: 2-21015356-G-A
• MyVariant Identifiers: chr2:g.21238228G>A (hg19) ; chr2:g.21015356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015356G>A , CM000664.2:g.21015356G>A	GRCh38
NC_000002.11:g.21238228G>A , CM000664.1:g.21238228G>A	GRCh37
NC_000002.10:g.21091733G>A	NCBI36
NG_011793.1:g.33718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2814+14C>T	ENSP00000501110.2:n.*2814+14C>T
ENST00000673882.2:c.*2603+14C>T	ENSP00000501253.2:n.*2603+14C>T
ENST00000673739.1:c.3222+14C>T	ENSP00000501110.1:n.3222+14C>T
ENST00000673882.1:c.3011+14C>T	ENSP00000501253.1:n.3011+14C>T
ENST00000233242.5:c.3508+14C>T MANE Select	ENSP00000233242.1:n.3508+14C>T
ENST00000616098.4:c.3508+14C>T	ENSP00000477990.1:n.3508+14C>T
NM_000384.2:c.3508+14C>T	NP_000375.2:n.3508+14C>T
XM_011532809.1:c.3508+14C>T	XP_011531111.1:n.3508+14C>T
NM_000384.3:c.3508+14C>T MANE Select	NP_000375.3:n.3508+14C>T