Canonical Allele Identifier: CA396279373
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436068T>G , CM000678.2:g.67436068T>G GRCh38
NC_000016.9:g.67469971T>G , CM000678.1:g.67469971T>G GRCh37
NC_000016.8:g.66027472T>G NCBI36
NG_011482.1:g.50119A>C
NG_016549.1:g.9936T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.590T>G MANE Select ENSP00000316786.5:p.Leu197Arg
ENST00000326152.5:c.590T>G ENSP00000316786.5:p.Leu197Arg
ENST00000566606.1:c.568T>G ENSP00000473429.1:n.568T>G
ENST00000567684.2:n.453T>G
NM_000196.3:c.590T>G NP_000187.3:p.Leu197Arg
NM_000196.4:c.590T>G MANE Select NP_000187.3:p.Leu197Arg