Canonical Allele Identifier: CA054315
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 375860
ClinVar RCV Id: RCV001837892
dbSNP Id: rs145862664
ExAC: 2:21251380 C / G
gnomAD v2: 2-21251380-C-G
gnomAD v3: 2-21028508-C-G
gnomAD v4: 2-21028508-C-G
COSMIC: COSM2716299
MyVariant Identifiers: chr2:g.21251380C>G (hg19) chr2:g.21028508C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21028508C>G , CM000664.2:g.21028508C>G GRCh38
NC_000002.11:g.21251380C>G , CM000664.1:g.21251380C>G GRCh37
NC_000002.10:g.21104885C>G NCBI36
NG_011793.1:g.20566G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*954G>C ENSP00000501110.2:n.*954G>C
ENST00000673882.2:c.*954G>C ENSP00000501253.2:n.*954G>C
ENST00000673739.1:c.1362G>C ENSP00000501110.1:n.1362G>C
ENST00000673882.1:c.1362G>C ENSP00000501253.1:n.1362G>C
ENST00000233242.5:c.1648G>C MANE Select ENSP00000233242.1:p.Asp550His
ENST00000399256.4:c.1648G>C ENSP00000382200.4:p.Asp550His
ENST00000616098.4:c.1648G>C ENSP00000477990.1:p.Asp550His
NM_000384.2:c.1648G>C NP_000375.2:p.Asp550His
XM_011532809.1:c.1648G>C XP_011531111.1:p.Asp550His
NM_000384.3:c.1648G>C MANE Select NP_000375.3:p.Asp550His
Search 100 bp 5'
Search 100 bp 3'