Canonical Allele Identifier: CA396282258
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436708T>A , CM000678.2:g.67436708T>A GRCh38
NC_000016.9:g.67470611T>A , CM000678.1:g.67470611T>A GRCh37
NC_000016.8:g.66028112T>A NCBI36
NG_011482.1:g.49479A>T
NG_016549.1:g.10576T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.923T>A MANE Select ENSP00000316786.5:p.Leu308Gln
ENST00000326152.5:c.923T>A ENSP00000316786.5:p.Leu308Gln
NM_000196.3:c.923T>A NP_000187.3:p.Leu308Gln
NM_000196.4:c.923T>A MANE Select NP_000187.3:p.Leu308Gln