Canonical Allele Identifier: CA2229310392
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436620C= , CM000678.2:g.67436620C= GRCh38
NC_000016.9:g.67470523C= , CM000678.1:g.67470523C= GRCh37
NC_000016.8:g.66028024C= NCBI36
NG_011482.1:g.49567G=
NG_016549.1:g.10488C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.835C= MANE Select ENSP00000316786.5:p.Arg279=
ENST00000326152.5:c.835C= ENSP00000316786.5:p.Arg279=
NM_000196.3:c.835C= NP_000187.3:p.Arg279=
NM_000196.4:c.835C= MANE Select NP_000187.3:p.Arg279=