Canonical Allele Identifier: CA121880
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12094
ClinVar RCV Id: RCV000012875
dbSNP Id: rs28934591
gnomAD v4: 16-67436115-C-T
MyVariant Identifiers: chr16:g.67470018C>T (hg19) chr16:g.67436115C>T (hg38)
PubMed: PMID:3860318 PMID:7670488 PMID:9851783
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436115C>T , CM000678.2:g.67436115C>T GRCh38
NC_000016.9:g.67470018C>T , CM000678.1:g.67470018C>T GRCh37
NC_000016.8:g.66027519C>T NCBI36
NG_011482.1:g.50072G>A
NG_016549.1:g.9983C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.637C>T MANE Select ENSP00000316786.5:p.Arg213Cys
ENST00000326152.5:c.637C>T ENSP00000316786.5:p.Arg213Cys
ENST00000566606.1:c.615C>T ENSP00000473429.1:n.615C>T
ENST00000567684.2:n.500C>T
NM_000196.3:c.637C>T NP_000187.3:p.Arg213Cys
NM_000196.4:c.637C>T MANE Select NP_000187.3:p.Arg213Cys
Search 100 bp 5'
Search 100 bp 3'