Canonical Allele Identifier: CA121883
Gene: HSD11B2 HGNC NCBI
gnomAD v2:
16:67470697 CGCT / C
gnomAD v3:
16:67436794 CGCT / C
gnomAD v4:
chr16-67436794-CGCT-C
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar RCV:
RCV000012878
ClinVar Variation:
12097
dbSNP:
397509434
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436795_67436797del , CM000678.2:g.67436795_67436797del GRCh38
NC_000016.9:g.67470698_67470700del , CM000678.1:g.67470698_67470700del GRCh37
NC_000016.8:g.66028199_66028201del NCBI36
NG_011482.1:g.49390_49392del
NG_016549.1:g.10663_10665del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1010_1012del MANE Select ENSP00000316786.5:p.Arg337_Tyr338delinsHis
ENST00000326152.5:c.1010_1012del ENSP00000316786.5:p.Arg337_Tyr338delinsHis
NM_000196.3:c.1010_1012del NP_000187.3:p.Arg337_Tyr338delinsHis
NM_000196.4:c.1010_1012del MANE Select NP_000187.3:p.Arg337_Tyr338delinsHis
Search 100 bp 5'
Search 100 bp 3'