Canonical Allele Identifier: CA396280224
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436267G>C , CM000678.2:g.67436267G>C GRCh38
NC_000016.9:g.67470170G>C , CM000678.1:g.67470170G>C GRCh37
NC_000016.8:g.66027671G>C NCBI36
NG_011482.1:g.49920C>G
NG_016549.1:g.10135G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.683G>C MANE Select ENSP00000316786.5:p.Cys228Ser
ENST00000326152.5:c.683G>C ENSP00000316786.5:p.Cys228Ser
NM_000196.3:c.683G>C NP_000187.3:p.Cys228Ser
NM_000196.4:c.683G>C MANE Select NP_000187.3:p.Cys228Ser