Canonical Allele Identifier: CA396281884
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436648C>G , CM000678.2:g.67436648C>G GRCh38
NC_000016.9:g.67470551C>G , CM000678.1:g.67470551C>G GRCh37
NC_000016.8:g.66028052C>G NCBI36
NG_011482.1:g.49539G>C
NG_016549.1:g.10516C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.863C>G MANE Select ENSP00000316786.5:p.Pro288Arg
ENST00000326152.5:c.863C>G ENSP00000316786.5:p.Pro288Arg
NM_000196.3:c.863C>G NP_000187.3:p.Pro288Arg
NM_000196.4:c.863C>G MANE Select NP_000187.3:p.Pro288Arg