Canonical Allele Identifier: CA2576029139

Gene: HSD11B2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67435581T>G , CM000678.2:g.67435581T>G	GRCh38
NC_000016.9:g.67469484T>G , CM000678.1:g.67469484T>G	GRCh37
NC_000016.8:g.66026985T>G	NCBI36
NG_016549.1:g.9449T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.266-47T>G MANE Select	ENSP00000316786.5:n.266-47T>G
ENST00000326152.5:c.266-47T>G	ENSP00000316786.5:n.266-47T>G
ENST00000566606.1:c.197T>G	ENSP00000473429.1:n.197T>G
ENST00000567684.2:n.129-47T>G
NM_000196.3:c.266-47T>G	NP_000187.3:n.266-47T>G
NM_000196.4:c.266-47T>G MANE Select	NP_000187.3:n.266-47T>G