Canonical Allele Identifier: CA396277387

Gene: HSD11B2

Linked Data

• ClinVar Variation Id: 447525
• ClinVar RCV Id: RCV000517382 ; RCV001570971 ; RCV000995564
• dbSNP Id: rs1555518481
• gnomAD v4: 16-67435628-G-A
• MyVariant Identifiers: chr16:g.67469531G>A (hg19) ; chr16:g.67435628G>A (hg38)
• PubMed: PMID:24123366 ; PMID:25593612

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67435628G>A , CM000678.2:g.67435628G>A	GRCh38
NC_000016.9:g.67469531G>A , CM000678.1:g.67469531G>A	GRCh37
NC_000016.8:g.66027032G>A	NCBI36
NG_016549.1:g.9496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.266G>A MANE Select	ENSP00000316786.5:p.Gly89Asp
ENST00000326152.5:c.266G>A	ENSP00000316786.5:p.Gly89Asp
ENST00000566606.1:c.244G>A	ENSP00000473429.1:n.244G>A
ENST00000567684.2:n.129G>A
NM_000196.3:c.266G>A	NP_000187.3:p.Gly89Asp
NM_000196.4:c.266G>A MANE Select	NP_000187.3:p.Gly89Asp