Canonical Allele Identifier: CA425347246

Gene: APOB

Linked Data

• ClinVar Variation Id: 1111949
• ClinVar RCV Id: RCV001837493
• dbSNP Id: rs2103362722
• MyVariant Identifiers: chr2:g.21238083G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015211G>A , CM000664.2:g.21015211G>A	GRCh38
NC_000002.11:g.21238083G>A , CM000664.1:g.21238083G>A	GRCh37
NC_000002.10:g.21091588G>A	NCBI36
NG_011793.1:g.33863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2864C>T	ENSP00000501110.2:n.*2864C>T
ENST00000673882.2:c.*2653C>T	ENSP00000501253.2:n.*2653C>T
ENST00000673739.1:c.3272C>T	ENSP00000501110.1:n.3272C>T
ENST00000673882.1:c.3061C>T	ENSP00000501253.1:n.3061C>T
ENST00000233242.5:c.3558C>T MANE Select	ENSP00000233242.1:p.Thr1186=
ENST00000616098.4:c.3558C>T	ENSP00000477990.1:p.Thr1186=
NM_000384.2:c.3558C>T	NP_000375.2:p.Thr1186=
XM_011532809.1:c.3558C>T	XP_011531111.1:p.Thr1186=
NM_000384.3:c.3558C>T MANE Select	NP_000375.3:p.Thr1186=