Canonical Allele Identifier: CA43487794
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 928140
ClinVar RCV Id: RCV002484052
dbSNP Id: rs953483853
gnomAD v2: 2-21224975-A-G
gnomAD v3: 2-21002103-A-G
gnomAD v4: 2-21002103-A-G
MyVariant Identifiers: chr2:g.21224975A>G (hg19) chr2:g.21002103A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002103A>G , CM000664.2:g.21002103A>G GRCh38
NC_000002.11:g.21224975A>G , CM000664.1:g.21224975A>G GRCh37
NC_000002.10:g.21078480A>G NCBI36
NG_011793.1:g.46971T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13319T>C MANE Select ENSP00000233242.1:p.Val4440Ala
ENST00000616098.4:c.13317T>C ENSP00000477990.1:n.13317T>C
NM_000384.2:c.13319T>C NP_000375.2:p.Val4440Ala
XM_011532809.1:c.5870-2830T>C XP_011531111.1:n.5870-2830T>C
NM_000384.3:c.13319T>C MANE Select NP_000375.3:p.Val4440Ala
Search 100 bp 5'
Search 100 bp 3'