Canonical Allele Identifier: CA396279128
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436033C>A , CM000678.2:g.67436033C>A GRCh38
NC_000016.9:g.67469936C>A , CM000678.1:g.67469936C>A GRCh37
NC_000016.8:g.66027437C>A NCBI36
NG_011482.1:g.50154G>T
NG_016549.1:g.9901C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.555C>A MANE Select ENSP00000316786.5:p.Phe185Leu
ENST00000326152.5:c.555C>A ENSP00000316786.5:p.Phe185Leu
ENST00000566606.1:c.533C>A ENSP00000473429.1:n.533C>A
ENST00000567684.2:n.418C>A
NM_000196.3:c.555C>A NP_000187.3:p.Phe185Leu
NM_000196.4:c.555C>A MANE Select NP_000187.3:p.Phe185Leu