Canonical Allele Identifier: CA2229310404
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436629T= , CM000678.2:g.67436629T= GRCh38
NC_000016.9:g.67470532T= , CM000678.1:g.67470532T= GRCh37
NC_000016.8:g.66028033T= NCBI36
NG_011482.1:g.49558A=
NG_016549.1:g.10497T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.844T= MANE Select ENSP00000316786.5:p.Leu282=
ENST00000326152.5:c.844T= ENSP00000316786.5:p.Leu282=
NM_000196.3:c.844T= NP_000187.3:p.Leu282=
NM_000196.4:c.844T= MANE Select NP_000187.3:p.Leu282=