Canonical Allele Identifier: CA2807429815
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437015C>A , CM000678.2:g.67437015C>A GRCh38
NC_000016.9:g.67470918C>A , CM000678.1:g.67470918C>A GRCh37
NC_000016.8:g.66028419C>A NCBI36
NG_011482.1:g.49172G>T
NG_016549.1:g.10883C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*12C>A MANE Select ENSP00000316786.5:n.*12C>A
ENST00000326152.5:c.*12C>A ENSP00000316786.5:n.*12C>A
NM_000196.3:c.*12C>A NP_000187.3:n.*12C>A
NM_000196.4:c.*12C>A MANE Select NP_000187.3:n.*12C>A