Canonical Allele Identifier: CA8110662
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs747711207
ExAC: 16:67469947 T / A
gnomAD v2: 16-67469947-T-A
gnomAD v4: 16-67436044-T-A
MyVariant Identifiers: chr16:g.67469947T>A (hg19) chr16:g.67436044T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436044T>A , CM000678.2:g.67436044T>A GRCh38
NC_000016.9:g.67469947T>A , CM000678.1:g.67469947T>A GRCh37
NC_000016.8:g.66027448T>A NCBI36
NG_011482.1:g.50143A>T
NG_016549.1:g.9912T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.566T>A MANE Select ENSP00000316786.5:p.Met189Lys
ENST00000326152.5:c.566T>A ENSP00000316786.5:p.Met189Lys
ENST00000566606.1:c.544T>A ENSP00000473429.1:n.544T>A
ENST00000567684.2:n.429T>A
NM_000196.3:c.566T>A NP_000187.3:p.Met189Lys
NM_000196.4:c.566T>A MANE Select NP_000187.3:p.Met189Lys
Search 100 bp 5'
Search 100 bp 3'