Canonical Allele Identifier: CA396279359
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436067C>A , CM000678.2:g.67436067C>A GRCh38
NC_000016.9:g.67469970C>A , CM000678.1:g.67469970C>A GRCh37
NC_000016.8:g.66027471C>A NCBI36
NG_011482.1:g.50120G>T
NG_016549.1:g.9935C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.589C>A MANE Select ENSP00000316786.5:p.Leu197Ile
ENST00000326152.5:c.589C>A ENSP00000316786.5:p.Leu197Ile
ENST00000566606.1:c.567C>A ENSP00000473429.1:n.567C>A
ENST00000567684.2:n.452C>A
NM_000196.3:c.589C>A NP_000187.3:p.Leu197Ile
NM_000196.4:c.589C>A MANE Select NP_000187.3:p.Leu197Ile