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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:
CA496082851
Gene: HSD11B2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr16:g.67470177G>C (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.67436274G>C , CM000678.2:g.67436274G>C
GRCh38
NC_000016.9:g.67470177G>C , CM000678.1:g.67470177G>C
GRCh37
NC_000016.8:g.66027678G>C
NCBI36
NG_011482.1:g.49913C>G
NG_016549.1:g.10142G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000326152.6:c.690G>C
MANE Select
ENSP00000316786.5:p.Gly230=
ENST00000326152.5:c.690G>C
ENSP00000316786.5:p.Gly230=
NM_000196.3:c.690G>C
NP_000187.3:p.Gly230=
NM_000196.4:c.690G>C
MANE Select
NP_000187.3:p.Gly230=
Search 100 bp 5'
Search 100 bp 3'