Canonical Allele Identifier: CA064345
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 918972
ClinVar RCV Id: RCV003769888 RCV003163393
dbSNP Id: rs532531549
ExAC: 2:21232385 C / G
gnomAD v2: 2-21232385-C-G
gnomAD v3: 2-21009513-C-G
gnomAD v4: 2-21009513-C-G
MyVariant Identifiers: chr2:g.21232385C>G (hg19) chr2:g.21009513C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009513C>G , CM000664.2:g.21009513C>G GRCh38
NC_000002.11:g.21232385C>G , CM000664.1:g.21232385C>G GRCh37
NC_000002.10:g.21085890C>G NCBI36
NG_011793.1:g.39561G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7355G>C MANE Select ENSP00000233242.1:p.Gly2452Ala
ENST00000616098.4:c.7355G>C ENSP00000477990.1:p.Gly2452Ala
NM_000384.2:c.7355G>C NP_000375.2:p.Gly2452Ala
XM_011532809.1:c.5869+1220G>C XP_011531111.1:n.5869+1220G>C
NM_000384.3:c.7355G>C MANE Select NP_000375.3:p.Gly2452Ala
Search 100 bp 5'
Search 100 bp 3'