Canonical Allele Identifier: CA8110727
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2072930
ClinVar RCV Id: RCV002949688
dbSNP Id: rs45573731
ExAC: 16:67470207 G / A
gnomAD v2: 16-67470207-G-A
gnomAD v3: 16-67436304-G-A
gnomAD v4: 16-67436304-G-A
MyVariant Identifiers: chr16:g.67470207G>A (hg19) chr16:g.67436304G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436304G>A , CM000678.2:g.67436304G>A GRCh38
NC_000016.9:g.67470207G>A , CM000678.1:g.67470207G>A GRCh37
NC_000016.8:g.66027708G>A NCBI36
NG_011482.1:g.49883C>T
NG_016549.1:g.10172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.720G>A MANE Select ENSP00000316786.5:p.Ala240=
ENST00000326152.5:c.720G>A ENSP00000316786.5:p.Ala240=
NM_000196.3:c.720G>A NP_000187.3:p.Ala240=
NM_000196.4:c.720G>A MANE Select NP_000187.3:p.Ala240=
Search 100 bp 5'
Search 100 bp 3'