Canonical Allele Identifier: CA2229309695
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436089_67436090delinsTG , CM000678.2:g.67436089_67436090delinsTG GRCh38
NC_000016.9:g.67469992_67469993delinsTG , CM000678.1:g.67469992_67469993delinsTG GRCh37
NC_000016.8:g.66027493_66027494delinsTG NCBI36
NG_011482.1:g.50097_50098delinsCA
NG_016549.1:g.9957_9958delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.611_612delinsTG MANE Select ENSP00000316786.5:p.Leu204=
ENST00000326152.5:c.611_612delinsTG ENSP00000316786.5:p.Leu204=
ENST00000566606.1:c.589_590delinsTG ENSP00000473429.1:n.589_590delinsTG
ENST00000567684.2:n.474_475delinsTG
NM_000196.3:c.611_612delinsTG NP_000187.3:p.Leu204=
NM_000196.4:c.611_612delinsTG MANE Select NP_000187.3:p.Leu204=