Canonical Allele Identifier: CA8110768
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs778393409
ExAC: 16:67470585 C / T
gnomAD v2: 16-67470585-C-T
gnomAD v4: 16-67436682-C-T
MyVariant Identifiers: chr16:g.67470585C>T (hg19) chr16:g.67436682C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436682C>T , CM000678.2:g.67436682C>T GRCh38
NC_000016.9:g.67470585C>T , CM000678.1:g.67470585C>T GRCh37
NC_000016.8:g.66028086C>T NCBI36
NG_011482.1:g.49505G>A
NG_016549.1:g.10550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.897C>T MANE Select ENSP00000316786.5:p.Tyr299=
ENST00000326152.5:c.897C>T ENSP00000316786.5:p.Tyr299=
NM_000196.3:c.897C>T NP_000187.3:p.Tyr299=
NM_000196.4:c.897C>T MANE Select NP_000187.3:p.Tyr299=
Search 100 bp 5'
Search 100 bp 3'