Canonical Allele Identifier: CA425341801
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2922221
ClinVar RCV Id: RCV003785435
dbSNP Id: rs1662998959
MyVariant Identifiers: chr2:g.21225025A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002153A>G , CM000664.2:g.21002153A>G GRCh38
NC_000002.11:g.21225025A>G , CM000664.1:g.21225025A>G GRCh37
NC_000002.10:g.21078530A>G NCBI36
NG_011793.1:g.46921T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13269T>C MANE Select ENSP00000233242.1:p.Ser4423=
ENST00000616098.4:c.13267T>C ENSP00000477990.1:n.13267T>C
NM_000384.2:c.13269T>C NP_000375.2:p.Ser4423=
XM_011532809.1:c.5870-2880T>C XP_011531111.1:n.5870-2880T>C
NM_000384.3:c.13269T>C MANE Select NP_000375.3:p.Ser4423=
Search 100 bp 5'
Search 100 bp 3'