Canonical Allele Identifier: CA051769
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs776577420
ExAC: 2:21225238 T / C
gnomAD v2: 2-21225238-T-C
gnomAD v4: 2-21002366-T-C
MyVariant Identifiers: chr2:g.21225238T>C (hg19) chr2:g.21002366T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002366T>C , CM000664.2:g.21002366T>C GRCh38
NC_000002.11:g.21225238T>C , CM000664.1:g.21225238T>C GRCh37
NC_000002.10:g.21078743T>C NCBI36
NG_011793.1:g.46708A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13056A>G MANE Select ENSP00000233242.1:p.Leu4352=
ENST00000616098.4:c.13054A>G ENSP00000477990.1:n.13054A>G
NM_000384.2:c.13056A>G NP_000375.2:p.Leu4352=
XM_011532809.1:c.5870-3093A>G XP_011531111.1:n.5870-3093A>G
NM_000384.3:c.13056A>G MANE Select NP_000375.3:p.Leu4352=
Search 100 bp 5'
Search 100 bp 3'