Canonical Allele Identifier: CA345997523
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1572782382
gnomAD v3: 2-21009598-T-C
gnomAD v4: 2-21009598-T-C
MyVariant Identifiers: chr2:g.21232470T>C (hg19) chr2:g.21009598T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009598T>C , CM000664.2:g.21009598T>C GRCh38
NC_000002.11:g.21232470T>C , CM000664.1:g.21232470T>C GRCh37
NC_000002.10:g.21085975T>C NCBI36
NG_011793.1:g.39476A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7270A>G MANE Select ENSP00000233242.1:p.Ile2424Val
ENST00000616098.4:c.7270A>G ENSP00000477990.1:p.Ile2424Val
NM_000384.2:c.7270A>G NP_000375.2:p.Ile2424Val
XM_011532809.1:c.5869+1135A>G XP_011531111.1:n.5869+1135A>G
NM_000384.3:c.7270A>G MANE Select NP_000375.3:p.Ile2424Val
Search 100 bp 5'
Search 100 bp 3'