Canonical Allele Identifier: CA346003869
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663301598
gnomAD v4: 2-21011031-T-C
COSMIC: COSM5043841
MyVariant Identifiers: chr2:g.21233903T>C (hg19) chr2:g.21011031T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011031T>C , CM000664.2:g.21011031T>C GRCh38
NC_000002.11:g.21233903T>C , CM000664.1:g.21233903T>C GRCh37
NC_000002.10:g.21087408T>C NCBI36
NG_011793.1:g.38043A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5837A>G MANE Select ENSP00000233242.1:p.Tyr1946Cys
ENST00000616098.4:c.5837A>G ENSP00000477990.1:p.Tyr1946Cys
NM_000384.2:c.5837A>G NP_000375.2:p.Tyr1946Cys
XM_011532809.1:c.5837A>G XP_011531111.1:p.Tyr1946Cys
NM_000384.3:c.5837A>G MANE Select NP_000375.3:p.Tyr1946Cys
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