Canonical Allele Identifier: CA425346277
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1653203
ClinVar RCV Id: RCV002160945
dbSNP Id: rs2103357802
gnomAD v4: 2-21011021-G-A
MyVariant Identifiers: chr2:g.21233893G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011021G>A , CM000664.2:g.21011021G>A GRCh38
NC_000002.11:g.21233893G>A , CM000664.1:g.21233893G>A GRCh37
NC_000002.10:g.21087398G>A NCBI36
NG_011793.1:g.38053C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5847C>T MANE Select ENSP00000233242.1:p.Ser1949=
ENST00000616098.4:c.5847C>T ENSP00000477990.1:p.Ser1949=
NM_000384.2:c.5847C>T NP_000375.2:p.Ser1949=
XM_011532809.1:c.5847C>T XP_011531111.1:p.Ser1949=
NM_000384.3:c.5847C>T MANE Select NP_000375.3:p.Ser1949=