Canonical Allele Identifier: CA496082650
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436033-C-T
MyVariant Identifiers: chr16:g.67469936C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436033C>T , CM000678.2:g.67436033C>T GRCh38
NC_000016.9:g.67469936C>T , CM000678.1:g.67469936C>T GRCh37
NC_000016.8:g.66027437C>T NCBI36
NG_011482.1:g.50154G>A
NG_016549.1:g.9901C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.555C>T MANE Select ENSP00000316786.5:p.Phe185=
ENST00000326152.5:c.555C>T ENSP00000316786.5:p.Phe185=
ENST00000566606.1:c.533C>T ENSP00000473429.1:n.533C>T
ENST00000567684.2:n.418C>T
NM_000196.3:c.555C>T NP_000187.3:p.Phe185=
NM_000196.4:c.555C>T MANE Select NP_000187.3:p.Phe185=
Search 100 bp 5'
Search 100 bp 3'