Canonical Allele Identifier: CA345987713
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs756338430
gnomAD v3: 2-21006819-A-T
gnomAD v4: 2-21006819-A-T
MyVariant Identifiers: chr2:g.21229691A>T (hg19) chr2:g.21006819A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006819A>T , CM000664.2:g.21006819A>T GRCh38
NC_000002.11:g.21229691A>T , CM000664.1:g.21229691A>T GRCh37
NC_000002.10:g.21083196A>T NCBI36
NG_011793.1:g.42255T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10049T>A MANE Select ENSP00000233242.1:p.Leu3350Gln
ENST00000616098.4:c.10049T>A ENSP00000477990.1:p.Leu3350Gln
NM_000384.2:c.10049T>A NP_000375.2:p.Leu3350Gln
XM_011532809.1:c.5869+3914T>A XP_011531111.1:n.5869+3914T>A
NM_000384.3:c.10049T>A MANE Select NP_000375.3:p.Leu3350Gln
Search 100 bp 5'
Search 100 bp 3'