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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:
CA396280263
Gene: HSD11B2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1567530603
gnomAD v2:
16-67470178-G-C
gnomAD v4:
16-67436275-G-C
COSMIC:
COSM5673537
MyVariant Identifiers:
chr16:g.67470178G>C (hg19)
chr16:g.67470178_67470187delinsCCCTATGGAA (hg19)
chr16:g.67436275G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.67436275G>C , CM000678.2:g.67436275G>C
GRCh38
NC_000016.9:g.67470178G>C , CM000678.1:g.67470178G>C
GRCh37
NC_000016.8:g.66027679G>C
NCBI36
NG_011482.1:g.49912C>G
NG_016549.1:g.10143G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000326152.6:c.691G>C
MANE Select
ENSP00000316786.5:p.Ala231Pro
ENST00000326152.5:c.691G>C
ENSP00000316786.5:p.Ala231Pro
NM_000196.3:c.691G>C
NP_000187.3:p.Ala231Pro
NM_000196.4:c.691G>C
MANE Select
NP_000187.3:p.Ala231Pro
Search 100 bp 5'
Search 100 bp 3'