Canonical Allele Identifier: CA8110659
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 586029
ClinVar RCV Id: RCV000711979 RCV001703235
dbSNP Id: rs45483293
ExAC: 16:67469915 G / A
gnomAD v2: 16-67469915-G-A
gnomAD v3: 16-67436012-G-A
gnomAD v4: 16-67436012-G-A
MyVariant Identifiers: chr16:g.67469915G>A (hg19) chr16:g.67436012G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436012G>A , CM000678.2:g.67436012G>A GRCh38
NC_000016.9:g.67469915G>A , CM000678.1:g.67469915G>A GRCh37
NC_000016.8:g.66027416G>A NCBI36
NG_016549.1:g.9880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.534G>A MANE Select ENSP00000316786.5:p.Glu178=
ENST00000326152.5:c.534G>A ENSP00000316786.5:p.Glu178=
ENST00000566606.1:c.512G>A ENSP00000473429.1:n.512G>A
ENST00000567684.2:n.397G>A
NM_000196.3:c.534G>A NP_000187.3:p.Glu178=
NM_000196.4:c.534G>A MANE Select NP_000187.3:p.Glu178=
Search 100 bp 5'
Search 100 bp 3'