Canonical Allele Identifier: CA051455
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs772302023
ExAC: 2:21225395 T / G
gnomAD v2: 2-21225395-T-G
gnomAD v4: 2-21002523-T-G
MyVariant Identifiers: chr2:g.21225395T>G (hg19) chr2:g.21002523T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002523T>G , CM000664.2:g.21002523T>G GRCh38
NC_000002.11:g.21225395T>G , CM000664.1:g.21225395T>G GRCh37
NC_000002.10:g.21078900T>G NCBI36
NG_011793.1:g.46551A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12899A>C MANE Select ENSP00000233242.1:p.Gln4300Pro
ENST00000616098.4:c.12899A>C ENSP00000477990.1:p.Gln4300Pro
NM_000384.2:c.12899A>C NP_000375.2:p.Gln4300Pro
XM_011532809.1:c.5870-3250A>C XP_011531111.1:n.5870-3250A>C
NM_000384.3:c.12899A>C MANE Select NP_000375.3:p.Gln4300Pro
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