Canonical Allele Identifier: CA396285120
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436935A>G , CM000678.2:g.67436935A>G GRCh38
NC_000016.9:g.67470838A>G , CM000678.1:g.67470838A>G GRCh37
NC_000016.8:g.66028339A>G NCBI36
NG_011482.1:g.49252T>C
NG_016549.1:g.10803A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1150A>G MANE Select ENSP00000316786.5:p.Thr384Ala
ENST00000326152.5:c.1150A>G ENSP00000316786.5:p.Thr384Ala
NM_000196.3:c.1150A>G NP_000187.3:p.Thr384Ala
NM_000196.4:c.1150A>G MANE Select NP_000187.3:p.Thr384Ala