Canonical Allele Identifier: CA396282100
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436684T>A , CM000678.2:g.67436684T>A GRCh38
NC_000016.9:g.67470587T>A , CM000678.1:g.67470587T>A GRCh37
NC_000016.8:g.66028088T>A NCBI36
NG_011482.1:g.49503A>T
NG_016549.1:g.10552T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.899T>A MANE Select ENSP00000316786.5:p.Ile300Asn
ENST00000326152.5:c.899T>A ENSP00000316786.5:p.Ile300Asn
NM_000196.3:c.899T>A NP_000187.3:p.Ile300Asn
NM_000196.4:c.899T>A MANE Select NP_000187.3:p.Ile300Asn