Canonical Allele Identifier: CA121888

Gene: HSD11B2

Linked Data

• ClinVar Variation Id: 12101
• ClinVar RCV Id: RCV000012883 ; RCV002512996
• dbSNP Id: rs121917833
• ExAC: 16:67470154 G / A
• gnomAD v2: 16-67470154-G-A
• gnomAD v3: 16-67436251-G-A
• gnomAD v4: 16-67436251-G-A
• MyVariant Identifiers: chr16:g.67470154G>A (hg19) ; chr16:g.67436251G>A (hg38)
• PubMed: PMID:7670488 ; PMID:12788846

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436251G>A , CM000678.2:g.67436251G>A	GRCh38
NC_000016.9:g.67470154G>A , CM000678.1:g.67470154G>A	GRCh37
NC_000016.8:g.66027655G>A	NCBI36
NG_011482.1:g.49936C>T
NG_016549.1:g.10119G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326152.6:c.667G>A MANE Select	ENSP00000316786.5:p.Asp223Asn
ENST00000326152.5:c.667G>A	ENSP00000316786.5:p.Asp223Asn
ENST00000567684.2:n.530G>A
NM_000196.3:c.667G>A	NP_000187.3:p.Asp223Asn
NM_000196.4:c.667G>A MANE Select	NP_000187.3:p.Asp223Asn