Canonical Allele Identifier: CA396280230
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.685T>G MANE Select ENSP00000316786.5:p.Leu229Val
ENST00000326152.5:c.685T>G ENSP00000316786.5:p.Leu229Val
NM_000196.3:c.685T>G NP_000187.3:p.Leu229Val
NM_000196.4:c.685T>G MANE Select NP_000187.3:p.Leu229Val