Canonical Allele Identifier: CA2229309678
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436070G= , CM000678.2:g.67436070G= GRCh38
NC_000016.9:g.67469973G= , CM000678.1:g.67469973G= GRCh37
NC_000016.8:g.66027474G= NCBI36
NG_011482.1:g.50117C=
NG_016549.1:g.9938G=

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.592G= MANE Select ENSP00000316786.5:p.Glu198=
ENST00000326152.5:c.592G= ENSP00000316786.5:p.Glu198=
ENST00000566606.1:c.570G= ENSP00000473429.1:n.570G=
ENST00000567684.2:n.455G=
NM_000196.3:c.592G= NP_000187.3:p.Glu198=
NM_000196.4:c.592G= MANE Select NP_000187.3:p.Glu198=