Canonical Allele Identifier: CA8110712
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs758098589
ExAC: 16:67470129 C / CCCCA
gnomAD v2: 16-67470129-C-CCCCA
gnomAD v3: 16-67436226-C-CCCCA
gnomAD v4: 16-67436226-C-CCCCA
MyVariant Identifiers: chr16:g.67470129_67470130insCCCA (hg19) chr16:g.67436226_67436227insCCCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436228_67436231dup , CM000678.2:g.67436228_67436231dup GRCh38
NC_000016.9:g.67470131_67470134dup , CM000678.1:g.67470131_67470134dup GRCh37
NC_000016.8:g.66027632_66027635dup NCBI36
NG_011482.1:g.49957_49960dup
NG_016549.1:g.10096_10099dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.665-21_665-18dup MANE Select ENSP00000316786.5:n.665-21_665-18dup
ENST00000326152.5:c.665-21_665-18dup ENSP00000316786.5:n.665-21_665-18dup
ENST00000567684.2:n.528-21_528-18dup
NM_000196.3:c.665-21_665-18dup NP_000187.3:n.665-21_665-18dup
NM_000196.4:c.665-21_665-18dup MANE Select NP_000187.3:n.665-21_665-18dup
Search 100 bp 5'
Search 100 bp 3'