Canonical Allele Identifier: CA396280304
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436278T>C , CM000678.2:g.67436278T>C GRCh38
NC_000016.9:g.67470181T>C , CM000678.1:g.67470181T>C GRCh37
NC_000016.8:g.66027682T>C NCBI36
NG_011482.1:g.49909A>G
NG_016549.1:g.10146T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.694T>C MANE Select ENSP00000316786.5:p.Tyr232His
ENST00000326152.5:c.694T>C ENSP00000316786.5:p.Tyr232His
NM_000196.3:c.694T>C NP_000187.3:p.Tyr232His
NM_000196.4:c.694T>C MANE Select NP_000187.3:p.Tyr232His