Canonical Allele Identifier: CA396281902
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436653G>C , CM000678.2:g.67436653G>C GRCh38
NC_000016.9:g.67470556G>C , CM000678.1:g.67470556G>C GRCh37
NC_000016.8:g.66028057G>C NCBI36
NG_011482.1:g.49534C>G
NG_016549.1:g.10521G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.868G>C MANE Select ENSP00000316786.5:p.Glu290Gln
ENST00000326152.5:c.868G>C ENSP00000316786.5:p.Glu290Gln
NM_000196.3:c.868G>C NP_000187.3:p.Glu290Gln
NM_000196.4:c.868G>C MANE Select NP_000187.3:p.Glu290Gln