Canonical Allele Identifier: CA2229310834
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436908G= , CM000678.2:g.67436908G= GRCh38
NC_000016.9:g.67470811G= , CM000678.1:g.67470811G= GRCh37
NC_000016.8:g.66028312G= NCBI36
NG_011482.1:g.49279C=
NG_016549.1:g.10776G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1123G= MANE Select ENSP00000316786.5:p.Ala375=
ENST00000326152.5:c.1123G= ENSP00000316786.5:p.Ala375=
NM_000196.3:c.1123G= NP_000187.3:p.Ala375=
NM_000196.4:c.1123G= MANE Select NP_000187.3:p.Ala375=