Canonical Allele Identifier: CA425343944
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1768291
ClinVar RCV Id: RCV002376814
dbSNP Id: rs1342790972
gnomAD v2: 2-21229924-A-G
gnomAD v4: 2-21007052-A-G
MyVariant Identifiers: chr2:g.21229924A>G (hg19) chr2:g.21007052A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007052A>G , CM000664.2:g.21007052A>G GRCh38
NC_000002.11:g.21229924A>G , CM000664.1:g.21229924A>G GRCh37
NC_000002.10:g.21083429A>G NCBI36
NG_011793.1:g.42022T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9816T>C MANE Select ENSP00000233242.1:p.Tyr3272=
ENST00000616098.4:c.9816T>C ENSP00000477990.1:p.Tyr3272=
NM_000384.2:c.9816T>C NP_000375.2:p.Tyr3272=
XM_011532809.1:c.5869+3681T>C XP_011531111.1:n.5869+3681T>C
NM_000384.3:c.9816T>C MANE Select NP_000375.3:p.Tyr3272=
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