Canonical Allele Identifier: CA396279208
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436045G>C , CM000678.2:g.67436045G>C GRCh38
NC_000016.9:g.67469948G>C , CM000678.1:g.67469948G>C GRCh37
NC_000016.8:g.66027449G>C NCBI36
NG_011482.1:g.50142C>G
NG_016549.1:g.9913G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.567G>C MANE Select ENSP00000316786.5:p.Met189Ile
ENST00000326152.5:c.567G>C ENSP00000316786.5:p.Met189Ile
ENST00000566606.1:c.545G>C ENSP00000473429.1:n.545G>C
ENST00000567684.2:n.430G>C
NM_000196.3:c.567G>C NP_000187.3:p.Met189Ile
NM_000196.4:c.567G>C MANE Select NP_000187.3:p.Met189Ile