Canonical Allele Identifier: CA425341898
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21002383-A-G
MyVariant Identifiers: chr2:g.21225255A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002383A>G , CM000664.2:g.21002383A>G GRCh38
NC_000002.11:g.21225255A>G , CM000664.1:g.21225255A>G GRCh37
NC_000002.10:g.21078760A>G NCBI36
NG_011793.1:g.46691T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13039T>C MANE Select ENSP00000233242.1:p.Leu4347=
ENST00000616098.4:c.13037T>C ENSP00000477990.1:n.13037T>C
NM_000384.2:c.13039T>C NP_000375.2:p.Leu4347=
XM_011532809.1:c.5870-3110T>C XP_011531111.1:n.5870-3110T>C
NM_000384.3:c.13039T>C MANE Select NP_000375.3:p.Leu4347=