Canonical Allele Identifier: CA425342660
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21002804-C-T
COSMIC: COSM476856
MyVariant Identifiers: chr2:g.21225676C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002804C>T , CM000664.2:g.21002804C>T GRCh38
NC_000002.11:g.21225676C>T , CM000664.1:g.21225676C>T GRCh37
NC_000002.10:g.21079181C>T NCBI36
NG_011793.1:g.46270G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12618G>A MANE Select ENSP00000233242.1:p.Gly4206=
ENST00000616098.4:c.12618G>A ENSP00000477990.1:p.Gly4206=
NM_000384.2:c.12618G>A NP_000375.2:p.Gly4206=
XM_011532809.1:c.5870-3531G>A XP_011531111.1:n.5870-3531G>A
NM_000384.3:c.12618G>A MANE Select NP_000375.3:p.Gly4206=