Canonical Allele Identifier: CA396284822
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436902C>G , CM000678.2:g.67436902C>G GRCh38
NC_000016.9:g.67470805C>G , CM000678.1:g.67470805C>G GRCh37
NC_000016.8:g.66028306C>G NCBI36
NG_011482.1:g.49285G>C
NG_016549.1:g.10770C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1117C>G MANE Select ENSP00000316786.5:p.Pro373Ala
ENST00000326152.5:c.1117C>G ENSP00000316786.5:p.Pro373Ala
NM_000196.3:c.1117C>G NP_000187.3:p.Pro373Ala
NM_000196.4:c.1117C>G MANE Select NP_000187.3:p.Pro373Ala