Canonical Allele Identifier: CA396279330
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436061G>T , CM000678.2:g.67436061G>T GRCh38
NC_000016.9:g.67469964G>T , CM000678.1:g.67469964G>T GRCh37
NC_000016.8:g.66027465G>T NCBI36
NG_011482.1:g.50126C>A
NG_016549.1:g.9929G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.583G>T MANE Select ENSP00000316786.5:p.Gly195Cys
ENST00000326152.5:c.583G>T ENSP00000316786.5:p.Gly195Cys
ENST00000566606.1:c.561G>T ENSP00000473429.1:n.561G>T
ENST00000567684.2:n.446G>T
NM_000196.3:c.583G>T NP_000187.3:p.Gly195Cys
NM_000196.4:c.583G>T MANE Select NP_000187.3:p.Gly195Cys