Canonical Allele Identifier: CA396279530
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436094C>A , CM000678.2:g.67436094C>A GRCh38
NC_000016.9:g.67469997C>A , CM000678.1:g.67469997C>A GRCh37
NC_000016.8:g.66027498C>A NCBI36
NG_011482.1:g.50093G>T
NG_016549.1:g.9962C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.616C>A MANE Select ENSP00000316786.5:p.Leu206Met
ENST00000326152.5:c.616C>A ENSP00000316786.5:p.Leu206Met
ENST00000566606.1:c.594C>A ENSP00000473429.1:n.594C>A
ENST00000567684.2:n.479C>A
NM_000196.3:c.616C>A NP_000187.3:p.Leu206Met
NM_000196.4:c.616C>A MANE Select NP_000187.3:p.Leu206Met