Canonical Allele Identifier: CA396279534
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436095T>A , CM000678.2:g.67436095T>A GRCh38
NC_000016.9:g.67469998T>A , CM000678.1:g.67469998T>A GRCh37
NC_000016.8:g.66027499T>A NCBI36
NG_011482.1:g.50092A>T
NG_016549.1:g.9963T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.617T>A MANE Select ENSP00000316786.5:p.Leu206Gln
ENST00000326152.5:c.617T>A ENSP00000316786.5:p.Leu206Gln
ENST00000566606.1:c.595T>A ENSP00000473429.1:n.595T>A
ENST00000567684.2:n.480T>A
NM_000196.3:c.617T>A NP_000187.3:p.Leu206Gln
NM_000196.4:c.617T>A MANE Select NP_000187.3:p.Leu206Gln