Canonical Allele Identifier: CA43508675
Gene: APOB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.21012603C>T
gnomAD v3:
2:21012603 C / T
gnomAD v4:
chr2-21012603-C-T
Joint Max Group AF 0.00217973 (MID)
Genomes Max Group AF 0.00014672 (NFE)
Exomes Max Group AF 0.00229903 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21012603C>T , CM000664.2:g.21012603C>T GRCh38
NG_011793.1:g.36471G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*3571G>A ENSP00000501110.2:n.*3571G>A
ENST00000673739.1:c.3979G>A ENSP00000501110.1:n.3979G>A
ENST00000233242.5:c.4265G>A MANE Select ENSP00000233242.1:p.Cys1422Tyr
ENST00000616098.4:c.4265G>A ENSP00000477990.1:p.Cys1422Tyr
NM_000384.2:c.4265G>A NP_000375.2:p.Cys1422Tyr
XM_011532809.1:c.4265G>A XP_011531111.1:p.Cys1422Tyr
NM_000384.3:c.4265G>A MANE Select NP_000375.3:p.Cys1422Tyr
Search 100 bp 5'
Search 100 bp 3'