Canonical Allele Identifier: CA063028
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 927952
ClinVar RCV Id: RCV002069157 RCV002365884
dbSNP Id: rs779753415
ExAC: 2:21233485 T / C
gnomAD v2: 2-21233485-T-C
gnomAD v3: 2-21010613-T-C
gnomAD v4: 2-21010613-T-C
MyVariant Identifiers: chr2:g.21233485T>C (hg19) chr2:g.21010613T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010613T>C , CM000664.2:g.21010613T>C GRCh38
NC_000002.11:g.21233485T>C , CM000664.1:g.21233485T>C GRCh37
NC_000002.10:g.21086990T>C NCBI36
NG_011793.1:g.38461A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6255A>G MANE Select ENSP00000233242.1:p.Arg2085=
ENST00000616098.4:c.6255A>G ENSP00000477990.1:p.Arg2085=
NM_000384.2:c.6255A>G NP_000375.2:p.Arg2085=
XM_011532809.1:c.5869+120A>G XP_011531111.1:n.5869+120A>G
NM_000384.3:c.6255A>G MANE Select NP_000375.3:p.Arg2085=
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Search 100 bp 3'