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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA346000590
Gene: APOB
HGNC
NCBI
Linked Data
dbSNP Id:
rs1553383646
gnomAD v4:
2-21010041-A-G
COSMIC:
COSM4090883
MyVariant Identifiers:
chr2:g.21232913A>G (hg19)
chr2:g.21010041A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21010041A>G , CM000664.2:g.21010041A>G
GRCh38
NC_000002.11:g.21232913A>G , CM000664.1:g.21232913A>G
GRCh37
NC_000002.10:g.21086418A>G
NCBI36
NG_011793.1:g.39033T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000233242.5:c.6827T>C
MANE Select
ENSP00000233242.1:p.Ile2276Thr
ENST00000616098.4:c.6827T>C
ENSP00000477990.1:p.Ile2276Thr
NM_000384.2:c.6827T>C
NP_000375.2:p.Ile2276Thr
XM_011532809.1:c.5869+692T>C
XP_011531111.1:n.5869+692T>C
NM_000384.3:c.6827T>C
MANE Select
NP_000375.3:p.Ile2276Thr
Search 100 bp 5'
Search 100 bp 3'