Canonical Allele Identifier: CA530859639

Gene: APOB

Linked Data

• ClinVar Variation Id: 2939121
• ClinVar RCV Id: RCV003791847
• dbSNP Id: rs1439568414
• gnomAD v2: 2-21260810-T-G
• gnomAD v4: 2-21037938-T-G
• MyVariant Identifiers: chr2:g.21260810T>G (hg19) ; chr2:g.21037938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21037938T>G , CM000664.2:g.21037938T>G	GRCh38
NC_000002.11:g.21260810T>G , CM000664.1:g.21260810T>G	GRCh37
NC_000002.10:g.21114315T>G	NCBI36
NG_011793.1:g.11136A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-683A>C	ENSP00000501110.2:n.384-683A>C
ENST00000673882.2:c.384-683A>C	ENSP00000501253.2:n.384-683A>C
ENST00000673739.1:c.252-683A>C	ENSP00000501110.1:n.252-683A>C
ENST00000673882.1:c.252-683A>C	ENSP00000501253.1:n.252-683A>C
ENST00000233242.5:c.537+20A>C MANE Select	ENSP00000233242.1:n.537+20A>C
ENST00000399256.4:c.537+20A>C	ENSP00000382200.4:n.537+20A>C
ENST00000616098.4:c.537+20A>C	ENSP00000477990.1:n.537+20A>C
NM_000384.2:c.537+20A>C	NP_000375.2:n.537+20A>C
XM_011532809.1:c.537+20A>C	XP_011531111.1:n.537+20A>C
NM_000384.3:c.537+20A>C MANE Select	NP_000375.3:n.537+20A>C