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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:
CA124623
Gene: HBG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15031
ClinVar RCV Id:
RCV001814966
dbSNP Id:
rs35710727
gnomAD v3:
11-5250055-A-G
gnomAD v4:
11-5250055-A-G
MyVariant Identifiers:
chr11:g.5271285A>G (hg19)
chr11:g.5250055A>G (hg38)
PubMed:
PMID:811241
PMID:2423160
PMID:2430647
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5250055A>G , CM000673.2:g.5250055A>G
GRCh38
NC_000011.9:g.5271285A>G , CM000673.1:g.5271285A>G
GRCh37
NC_000011.8:g.5227861A>G
NCBI36
NG_000007.3:g.47561T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000642908.1:c.316-1568T>C
ENSP00000495346.1:n.316-1568T>C
ENST00000647543.1:c.379-1568T>C
ENSP00000496470.1:n.379-1568T>C
ENST00000620888.4:c.316-1568T>C
ENSP00000479637.1:n.316-1568T>C
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