Canonical Allele Identifier: CA346008934

Gene: APOB

Linked Data

• ClinVar Variation Id: 1494951
• ClinVar RCV Id: RCV001989672
• dbSNP Id: rs867418897
• MyVariant Identifiers: chr2:g.21238241C>A (hg19) ; chr2:g.21015369C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015369C>A , CM000664.2:g.21015369C>A	GRCh38
NC_000002.11:g.21238241C>A , CM000664.1:g.21238241C>A	GRCh37
NC_000002.10:g.21091746C>A	NCBI36
NG_011793.1:g.33705G>T

Transcript Alleles

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