Canonical Allele Identifier: CA8110720
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 722303
ClinVar RCV Id: RCV000895920
dbSNP Id: rs72650122
ExAC: 16:67470168 G / A
gnomAD v2: 16-67470168-G-A
gnomAD v3: 16-67436265-G-A
gnomAD v4: 16-67436265-G-A
MyVariant Identifiers: chr16:g.67470168G>A (hg19) chr16:g.67436265G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436265G>A , CM000678.2:g.67436265G>A GRCh38
NC_000016.9:g.67470168G>A , CM000678.1:g.67470168G>A GRCh37
NC_000016.8:g.66027669G>A NCBI36
NG_011482.1:g.49922C>T
NG_016549.1:g.10133G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.681G>A MANE Select ENSP00000316786.5:p.Pro227=
ENST00000326152.5:c.681G>A ENSP00000316786.5:p.Pro227=
NM_000196.3:c.681G>A NP_000187.3:p.Pro227=
NM_000196.4:c.681G>A MANE Select NP_000187.3:p.Pro227=
Search 100 bp 5'
Search 100 bp 3'