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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:
CA919730037
Gene: HSD11B2
HGNC
NCBI
Linked Data
dbSNP Id:
rs765596024
gnomAD v3:
16-67436175-G-GC
gnomAD v4:
16-67436175-G-GC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.67436180dup , CM000678.2:g.67436180dup
GRCh38
NC_000016.9:g.67470083dup , CM000678.1:g.67470083dup
GRCh37
NC_000016.8:g.66027584dup
NCBI36
NG_011482.1:g.50011dup
NG_016549.1:g.10048dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000326152.6:c.664+38dup
MANE Select
ENSP00000316786.5:n.664+38dup
ENST00000326152.5:c.664+38dup
ENSP00000316786.5:n.664+38dup
ENST00000567684.2:n.527+38dup
NM_000196.3:c.664+38dup
NP_000187.3:n.664+38dup
NM_000196.4:c.664+38dup
MANE Select
NP_000187.3:n.664+38dup
Search 100 bp 5'
Search 100 bp 3'