Canonical Allele Identifier: CA345997536
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2928805
ClinVar RCV Id: RCV003789579
dbSNP Id: rs1405006721
gnomAD v2: 2-21232475-A-G
gnomAD v4: 2-21009603-A-G
MyVariant Identifiers: chr2:g.21232475A>G (hg19) chr2:g.21009603A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009603A>G , CM000664.2:g.21009603A>G GRCh38
NC_000002.11:g.21232475A>G , CM000664.1:g.21232475A>G GRCh37
NC_000002.10:g.21085980A>G NCBI36
NG_011793.1:g.39471T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7265T>C MANE Select ENSP00000233242.1:p.Met2422Thr
ENST00000616098.4:c.7265T>C ENSP00000477990.1:p.Met2422Thr
NM_000384.2:c.7265T>C NP_000375.2:p.Met2422Thr
XM_011532809.1:c.5869+1130T>C XP_011531111.1:n.5869+1130T>C
NM_000384.3:c.7265T>C MANE Select NP_000375.3:p.Met2422Thr
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