Canonical Allele Identifier: CA346003898
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21011043-A-C
MyVariant Identifiers: chr2:g.21233915A>C (hg19) chr2:g.21011043A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011043A>C , CM000664.2:g.21011043A>C GRCh38
NC_000002.11:g.21233915A>C , CM000664.1:g.21233915A>C GRCh37
NC_000002.10:g.21087420A>C NCBI36
NG_011793.1:g.38031T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5825T>G MANE Select ENSP00000233242.1:p.Phe1942Cys
ENST00000616098.4:c.5825T>G ENSP00000477990.1:p.Phe1942Cys
NM_000384.2:c.5825T>G NP_000375.2:p.Phe1942Cys
XM_011532809.1:c.5825T>G XP_011531111.1:p.Phe1942Cys
NM_000384.3:c.5825T>G MANE Select NP_000375.3:p.Phe1942Cys
Search 100 bp 5'
Search 100 bp 3'