Canonical Allele Identifier: CA396284705
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436884T>G , CM000678.2:g.67436884T>G GRCh38
NC_000016.9:g.67470787T>G , CM000678.1:g.67470787T>G GRCh37
NC_000016.8:g.66028288T>G NCBI36
NG_011482.1:g.49303A>C
NG_016549.1:g.10752T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1099T>G MANE Select ENSP00000316786.5:p.Phe367Val
ENST00000326152.5:c.1099T>G ENSP00000316786.5:p.Phe367Val
NM_000196.3:c.1099T>G NP_000187.3:p.Phe367Val
NM_000196.4:c.1099T>G MANE Select NP_000187.3:p.Phe367Val