Canonical Allele Identifier: CA063594
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1038754
ClinVar RCV Id: RCV001838496
dbSNP Id: rs145812136
ExAC: 2:21232912 T / C
gnomAD v2: 2-21232912-T-C
MyVariant Identifiers: chr2:g.21232912T>C (hg19) chr2:g.21010040T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010040T>C , CM000664.2:g.21010040T>C GRCh38
NC_000002.11:g.21232912T>C , CM000664.1:g.21232912T>C GRCh37
NC_000002.10:g.21086417T>C NCBI36
NG_011793.1:g.39034A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.6828A>G MANE Select ENSP00000233242.1:p.Ile2276Met
ENST00000616098.4:c.6828A>G ENSP00000477990.1:p.Ile2276Met
NM_000384.2:c.6828A>G NP_000375.2:p.Ile2276Met
XM_011532809.1:c.5869+693A>G XP_011531111.1:n.5869+693A>G
NM_000384.3:c.6828A>G MANE Select NP_000375.3:p.Ile2276Met
Search 100 bp 5'
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