Canonical Allele Identifier: CA396282391
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436723T>G , CM000678.2:g.67436723T>G GRCh38
NC_000016.9:g.67470626T>G , CM000678.1:g.67470626T>G GRCh37
NC_000016.8:g.66028127T>G NCBI36
NG_011482.1:g.49464A>C
NG_016549.1:g.10591T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.938T>G MANE Select ENSP00000316786.5:p.Leu313Arg
ENST00000326152.5:c.938T>G ENSP00000316786.5:p.Leu313Arg
NM_000196.3:c.938T>G NP_000187.3:p.Leu313Arg
NM_000196.4:c.938T>G MANE Select NP_000187.3:p.Leu313Arg