Canonical Allele Identifier: CA345990613
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2925935
ClinVar RCV Id: RCV003784029
dbSNP Id: rs1307411368
gnomAD v2: 2-21230444-T-C
gnomAD v3: 2-21007572-T-C
gnomAD v4: 2-21007572-T-C
MyVariant Identifiers: chr2:g.21230444T>C (hg19) chr2:g.21007572T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007572T>C , CM000664.2:g.21007572T>C GRCh38
NC_000002.11:g.21230444T>C , CM000664.1:g.21230444T>C GRCh37
NC_000002.10:g.21083949T>C NCBI36
NG_011793.1:g.41502A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.9296A>G MANE Select ENSP00000233242.1:p.Asn3099Ser
ENST00000616098.4:c.9296A>G ENSP00000477990.1:p.Asn3099Ser
NM_000384.2:c.9296A>G NP_000375.2:p.Asn3099Ser
XM_011532809.1:c.5869+3161A>G XP_011531111.1:n.5869+3161A>G
NM_000384.3:c.9296A>G MANE Select NP_000375.3:p.Asn3099Ser
Search 100 bp 5'
Search 100 bp 3'