Canonical Allele Identifier: CA425346286
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1273891659
gnomAD v3: 2-21011375-G-A
gnomAD v4: 2-21011375-G-A
MyVariant Identifiers: chr2:g.21234247G>A (hg19) chr2:g.21011375G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011375G>A , CM000664.2:g.21011375G>A GRCh38
NC_000002.11:g.21234247G>A , CM000664.1:g.21234247G>A GRCh37
NC_000002.10:g.21087752G>A NCBI36
NG_011793.1:g.37699C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*4799C>T ENSP00000501110.2:n.*4799C>T
ENST00000673739.1:c.5207C>T ENSP00000501110.1:n.5207C>T
ENST00000233242.5:c.5493C>T MANE Select ENSP00000233242.1:p.Tyr1831=
ENST00000616098.4:c.5493C>T ENSP00000477990.1:p.Tyr1831=
NM_000384.2:c.5493C>T NP_000375.2:p.Tyr1831=
XM_011532809.1:c.5493C>T XP_011531111.1:p.Tyr1831=
NM_000384.3:c.5493C>T MANE Select NP_000375.3:p.Tyr1831=
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