Canonical Allele Identifier: CA396280229
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436269T>A , CM000678.2:g.67436269T>A GRCh38
NC_000016.9:g.67470172T>A , CM000678.1:g.67470172T>A GRCh37
NC_000016.8:g.66027673T>A NCBI36
NG_011482.1:g.49918A>T
NG_016549.1:g.10137T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.685T>A MANE Select ENSP00000316786.5:p.Leu229Met
ENST00000326152.5:c.685T>A ENSP00000316786.5:p.Leu229Met
NM_000196.3:c.685T>A NP_000187.3:p.Leu229Met
NM_000196.4:c.685T>A MANE Select NP_000187.3:p.Leu229Met