Canonical Allele Identifier: CA425345936
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1094459
ClinVar RCV Id: RCV001837476
dbSNP Id: rs2103357378
gnomAD v4: 2-21010703-A-C
MyVariant Identifiers: chr2:g.21233575A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010703A>C , CM000664.2:g.21010703A>C GRCh38
NC_000002.11:g.21233575A>C , CM000664.1:g.21233575A>C GRCh37
NC_000002.10:g.21087080A>C NCBI36
NG_011793.1:g.38371T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6165T>G MANE Select ENSP00000233242.1:p.Val2055=
ENST00000616098.4:c.6165T>G ENSP00000477990.1:p.Val2055=
NM_000384.2:c.6165T>G NP_000375.2:p.Val2055=
XM_011532809.1:c.5869+30T>G XP_011531111.1:n.5869+30T>G
NM_000384.3:c.6165T>G MANE Select NP_000375.3:p.Val2055=
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