Canonical Allele Identifier: CA43465984

Gene: APOB

Linked Data

• dbSNP Id: rs986354951
• gnomAD v2: 2-21261261-T-C
• gnomAD v3: 2-21038389-T-C
• gnomAD v4: 2-21038389-T-C
• MyVariant Identifiers: chr2:g.21261261T>C (hg19) ; chr2:g.21038389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038389T>C , CM000664.2:g.21038389T>C	GRCh38
NC_000002.11:g.21261261T>C , CM000664.1:g.21261261T>C	GRCh37
NC_000002.10:g.21114766T>C	NCBI36
NG_011793.1:g.10685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-1134A>G	ENSP00000501110.2:n.384-1134A>G
ENST00000673882.2:c.384-1134A>G	ENSP00000501253.2:n.384-1134A>G
ENST00000673739.1:c.252-1134A>G	ENSP00000501110.1:n.252-1134A>G
ENST00000673882.1:c.252-1134A>G	ENSP00000501253.1:n.252-1134A>G
ENST00000233242.5:c.384-278A>G MANE Select	ENSP00000233242.1:n.384-278A>G
ENST00000399256.4:c.384-278A>G	ENSP00000382200.4:n.384-278A>G
ENST00000616098.4:c.384-278A>G	ENSP00000477990.1:n.384-278A>G
NM_000384.2:c.384-278A>G	NP_000375.2:n.384-278A>G
XM_011532809.1:c.384-278A>G	XP_011531111.1:n.384-278A>G
NM_000384.3:c.384-278A>G MANE Select	NP_000375.3:n.384-278A>G