Canonical Allele Identifier: CA346001543
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010333-T-C
COSMIC: COSM4455059
MyVariant Identifiers: chr2:g.21233205T>C (hg19) chr2:g.21010333T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010333T>C , CM000664.2:g.21010333T>C GRCh38
NC_000002.11:g.21233205T>C , CM000664.1:g.21233205T>C GRCh37
NC_000002.10:g.21086710T>C NCBI36
NG_011793.1:g.38741A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6535A>G MANE Select ENSP00000233242.1:p.Ile2179Val
ENST00000616098.4:c.6535A>G ENSP00000477990.1:p.Ile2179Val
NM_000384.2:c.6535A>G NP_000375.2:p.Ile2179Val
XM_011532809.1:c.5869+400A>G XP_011531111.1:n.5869+400A>G
NM_000384.3:c.6535A>G MANE Select NP_000375.3:p.Ile2179Val
Search 100 bp 5'
Search 100 bp 3'