Canonical Allele Identifier: CA396279005
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436011A>T , CM000678.2:g.67436011A>T GRCh38
NC_000016.9:g.67469914A>T , CM000678.1:g.67469914A>T GRCh37
NC_000016.8:g.66027415A>T NCBI36
NG_016549.1:g.9879A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.533A>T MANE Select ENSP00000316786.5:p.Glu178Val
ENST00000326152.5:c.533A>T ENSP00000316786.5:p.Glu178Val
ENST00000566606.1:c.511A>T ENSP00000473429.1:n.511A>T
ENST00000567684.2:n.396A>T
NM_000196.3:c.533A>T NP_000187.3:p.Glu178Val
NM_000196.4:c.533A>T MANE Select NP_000187.3:p.Glu178Val