Canonical Allele Identifier: CA43520440

Gene: APOB

Linked Data

• dbSNP Id: rs569001586
• gnomAD v3: 2-21023465-A-C
• gnomAD v4: 2-21023465-A-C
• MyVariant Identifiers: chr2:g.21246337A>C (hg19) ; chr2:g.21023465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21023465A>C , CM000664.2:g.21023465A>C	GRCh38
NC_000002.11:g.21246337A>C , CM000664.1:g.21246337A>C	GRCh37
NC_000002.10:g.21099842A>C	NCBI36
NG_011793.1:g.25609T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.*1910+60T>G	ENSP00000501110.2:n.*1910+60T>G
ENST00000673882.2:c.*1910+60T>G	ENSP00000501253.2:n.*1910+60T>G
ENST00000673739.1:c.2318+60T>G	ENSP00000501110.1:n.2318+60T>G
ENST00000673882.1:c.2318+60T>G	ENSP00000501253.1:n.2318+60T>G
ENST00000233242.5:c.2604+60T>G MANE Select	ENSP00000233242.1:n.2604+60T>G
ENST00000616098.4:c.2604+60T>G	ENSP00000477990.1:n.2604+60T>G
NM_000384.2:c.2604+60T>G	NP_000375.2:n.2604+60T>G
XM_011532809.1:c.2604+60T>G	XP_011531111.1:n.2604+60T>G
NM_000384.3:c.2604+60T>G MANE Select	NP_000375.3:n.2604+60T>G