Canonical Allele Identifier: CA345987749
Gene: APOB HGNC NCBI

Linked Data

COSMIC: COSM5734771
MyVariant Identifiers: chr2:g.21229700A>C (hg19) chr2:g.21006828A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006828A>C , CM000664.2:g.21006828A>C GRCh38
NC_000002.11:g.21229700A>C , CM000664.1:g.21229700A>C GRCh37
NC_000002.10:g.21083205A>C NCBI36
NG_011793.1:g.42246T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10040T>G MANE Select ENSP00000233242.1:p.Val3347Gly
ENST00000616098.4:c.10040T>G ENSP00000477990.1:p.Val3347Gly
NM_000384.2:c.10040T>G NP_000375.2:p.Val3347Gly
XM_011532809.1:c.5869+3905T>G XP_011531111.1:n.5869+3905T>G
NM_000384.3:c.10040T>G MANE Select NP_000375.3:p.Val3347Gly
Search 100 bp 5'
Search 100 bp 3'