Canonical Allele Identifier: CA2229310487
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436694G= , CM000678.2:g.67436694G= GRCh38
NC_000016.9:g.67470597G= , CM000678.1:g.67470597G= GRCh37
NC_000016.8:g.66028098G= NCBI36
NG_011482.1:g.49493C=
NG_016549.1:g.10562G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.909G= MANE Select ENSP00000316786.5:p.Leu303=
ENST00000326152.5:c.909G= ENSP00000316786.5:p.Leu303=
NM_000196.3:c.909G= NP_000187.3:p.Leu303=
NM_000196.4:c.909G= MANE Select NP_000187.3:p.Leu303=