Canonical Allele Identifier: CA396279839
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436137C>G , CM000678.2:g.67436137C>G GRCh38
NC_000016.9:g.67470040C>G , CM000678.1:g.67470040C>G GRCh37
NC_000016.8:g.66027541C>G NCBI36
NG_011482.1:g.50050G>C
NG_016549.1:g.10005C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.659C>G MANE Select ENSP00000316786.5:p.Pro220Arg
ENST00000326152.5:c.659C>G ENSP00000316786.5:p.Pro220Arg
ENST00000567684.2:n.522C>G
NM_000196.3:c.659C>G NP_000187.3:p.Pro220Arg
NM_000196.4:c.659C>G MANE Select NP_000187.3:p.Pro220Arg