Canonical Allele Identifier: CA346009021

Gene: APOB

Linked Data

• ClinVar Variation Id: 3127907
• ClinVar RCV Id: RCV004417740
• gnomAD v4: 2-21015409-A-G
• MyVariant Identifiers: chr2:g.21238281A>G (hg19) ; chr2:g.21015409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015409A>G , CM000664.2:g.21015409A>G	GRCh38
NC_000002.11:g.21238281A>G , CM000664.1:g.21238281A>G	GRCh37
NC_000002.10:g.21091786A>G	NCBI36
NG_011793.1:g.33665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2775T>C	ENSP00000501110.2:n.*2775T>C
ENST00000673882.2:c.*2564T>C	ENSP00000501253.2:n.*2564T>C
ENST00000673739.1:c.3183T>C	ENSP00000501110.1:n.3183T>C
ENST00000673882.1:c.2972T>C	ENSP00000501253.1:n.2972T>C
ENST00000233242.5:c.3469T>C MANE Select	ENSP00000233242.1:p.Tyr1157His
ENST00000616098.4:c.3469T>C	ENSP00000477990.1:p.Tyr1157His
NM_000384.2:c.3469T>C	NP_000375.2:p.Tyr1157His
XM_011532809.1:c.3469T>C	XP_011531111.1:p.Tyr1157His
NM_000384.3:c.3469T>C MANE Select	NP_000375.3:p.Tyr1157His