Canonical Allele Identifier: CA425341785
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1770022
ClinVar RCV Id: RCV002385805
dbSNP Id: rs1472517669
gnomAD v2: 2-21225019-A-G
gnomAD v3: 2-21002147-A-G
gnomAD v4: 2-21002147-A-G
MyVariant Identifiers: chr2:g.21225019A>G (hg19) chr2:g.21002147A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002147A>G , CM000664.2:g.21002147A>G GRCh38
NC_000002.11:g.21225019A>G , CM000664.1:g.21225019A>G GRCh37
NC_000002.10:g.21078524A>G NCBI36
NG_011793.1:g.46927T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13275T>C MANE Select ENSP00000233242.1:p.Tyr4425=
ENST00000616098.4:c.13273T>C ENSP00000477990.1:n.13273T>C
NM_000384.2:c.13275T>C NP_000375.2:p.Tyr4425=
XM_011532809.1:c.5870-2874T>C XP_011531111.1:n.5870-2874T>C
NM_000384.3:c.13275T>C MANE Select NP_000375.3:p.Tyr4425=
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