Canonical Allele Identifier: CA43502841
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs72653092
MyVariant Identifiers: chr2:g.21232455A>C (hg19) chr2:g.21009583A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009583A>C , CM000664.2:g.21009583A>C GRCh38
NC_000002.11:g.21232455A>C , CM000664.1:g.21232455A>C GRCh37
NC_000002.10:g.21085960A>C NCBI36
NG_011793.1:g.39491T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7285T>G MANE Select ENSP00000233242.1:p.Ser2429Ala
ENST00000616098.4:c.7285T>G ENSP00000477990.1:p.Ser2429Ala
NM_000384.2:c.7285T>G NP_000375.2:p.Ser2429Ala
XM_011532809.1:c.5869+1150T>G XP_011531111.1:n.5869+1150T>G
NM_000384.3:c.7285T>G MANE Select NP_000375.3:p.Ser2429Ala
Search 100 bp 5'
Search 100 bp 3'