Canonical Allele Identifier: CA396279415
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436077C>G , CM000678.2:g.67436077C>G GRCh38
NC_000016.9:g.67469980C>G , CM000678.1:g.67469980C>G GRCh37
NC_000016.8:g.66027481C>G NCBI36
NG_011482.1:g.50110G>C
NG_016549.1:g.9945C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.599C>G MANE Select ENSP00000316786.5:p.Thr200Ser
ENST00000326152.5:c.599C>G ENSP00000316786.5:p.Thr200Ser
ENST00000566606.1:c.577C>G ENSP00000473429.1:n.577C>G
ENST00000567684.2:n.462C>G
NM_000196.3:c.599C>G NP_000187.3:p.Thr200Ser
NM_000196.4:c.599C>G MANE Select NP_000187.3:p.Thr200Ser