Canonical Allele Identifier: CA064202

Gene: APOB

Linked Data

• ClinVar Variation Id: 412949
• ClinVar RCV Id: RCV001837919 ; RCV003168877
• dbSNP Id: rs140027955
• ExAC: 2:21232517 G / A
• gnomAD v2: 2-21232517-G-A
• gnomAD v3: 2-21009645-G-A
• gnomAD v4: 2-21009645-G-A
• MyVariant Identifiers: chr2:g.21232517G>A (hg19) ; chr2:g.21009645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21009645G>A , CM000664.2:g.21009645G>A	GRCh38
NC_000002.11:g.21232517G>A , CM000664.1:g.21232517G>A	GRCh37
NC_000002.10:g.21086022G>A	NCBI36
NG_011793.1:g.39429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.7223C>T MANE Select	ENSP00000233242.1:p.Ser2408Phe
ENST00000616098.4:c.7223C>T	ENSP00000477990.1:p.Ser2408Phe
NM_000384.2:c.7223C>T	NP_000375.2:p.Ser2408Phe
XM_011532809.1:c.5869+1088C>T	XP_011531111.1:n.5869+1088C>T
NM_000384.3:c.7223C>T MANE Select	NP_000375.3:p.Ser2408Phe