Canonical Allele Identifier: CA345988389
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs747787527
gnomAD v4: 2-21006996-C-A
MyVariant Identifiers: chr2:g.21229868C>A (hg19) chr2:g.21006996C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006996C>A , CM000664.2:g.21006996C>A GRCh38
NC_000002.11:g.21229868C>A , CM000664.1:g.21229868C>A GRCh37
NC_000002.10:g.21083373C>A NCBI36
NG_011793.1:g.42078G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9872G>T MANE Select ENSP00000233242.1:p.Arg3291Leu
ENST00000616098.4:c.9872G>T ENSP00000477990.1:p.Arg3291Leu
NM_000384.2:c.9872G>T NP_000375.2:p.Arg3291Leu
XM_011532809.1:c.5869+3737G>T XP_011531111.1:n.5869+3737G>T
NM_000384.3:c.9872G>T MANE Select NP_000375.3:p.Arg3291Leu
Search 100 bp 5'
Search 100 bp 3'