Canonical Allele Identifier: CA345997202
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2542991
ClinVar RCV Id: RCV004316480
MyVariant Identifiers: chr2:g.21232323T>A (hg19) chr2:g.21009451T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009451T>A , CM000664.2:g.21009451T>A GRCh38
NC_000002.11:g.21232323T>A , CM000664.1:g.21232323T>A GRCh37
NC_000002.10:g.21085828T>A NCBI36
NG_011793.1:g.39623A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7417A>T MANE Select ENSP00000233242.1:p.Thr2473Ser
ENST00000616098.4:c.7417A>T ENSP00000477990.1:p.Thr2473Ser
NM_000384.2:c.7417A>T NP_000375.2:p.Thr2473Ser
XM_011532809.1:c.5869+1282A>T XP_011531111.1:n.5869+1282A>T
NM_000384.3:c.7417A>T MANE Select NP_000375.3:p.Thr2473Ser
Search 100 bp 5'
Search 100 bp 3'