Canonical Allele Identifier: CA8110670
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs758536896
ExAC: 16:67469972 C / T
gnomAD v2: 16-67469972-C-T
gnomAD v3: 16-67436069-C-T
gnomAD v4: 16-67436069-C-T
MyVariant Identifiers: chr16:g.67469972C>T (hg19) chr16:g.67436069C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436069C>T , CM000678.2:g.67436069C>T GRCh38
NC_000016.9:g.67469972C>T , CM000678.1:g.67469972C>T GRCh37
NC_000016.8:g.66027473C>T NCBI36
NG_011482.1:g.50118G>A
NG_016549.1:g.9937C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.591C>T MANE Select ENSP00000316786.5:p.Leu197=
ENST00000326152.5:c.591C>T ENSP00000316786.5:p.Leu197=
ENST00000566606.1:c.569C>T ENSP00000473429.1:n.569C>T
ENST00000567684.2:n.454C>T
NM_000196.3:c.591C>T NP_000187.3:p.Leu197=
NM_000196.4:c.591C>T MANE Select NP_000187.3:p.Leu197=
Search 100 bp 5'
Search 100 bp 3'