Canonical Allele Identifier: CA396281688
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436610G>T , CM000678.2:g.67436610G>T GRCh38
NC_000016.9:g.67470513G>T , CM000678.1:g.67470513G>T GRCh37
NC_000016.8:g.66028014G>T NCBI36
NG_011482.1:g.49577C>A
NG_016549.1:g.10478G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.825G>T MANE Select ENSP00000316786.5:p.Gln275His
ENST00000326152.5:c.825G>T ENSP00000316786.5:p.Gln275His
NM_000196.3:c.825G>T NP_000187.3:p.Gln275His
NM_000196.4:c.825G>T MANE Select NP_000187.3:p.Gln275His