Canonical Allele Identifier: CA8110842
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs72650125
ExAC: 16:67470913 T / G
gnomAD v2: 16-67470913-T-G
gnomAD v3: 16-67437010-T-G
gnomAD v4: 16-67437010-T-G
MyVariant Identifiers: chr16:g.67470913T>G (hg19) chr16:g.67437010T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437010T>G , CM000678.2:g.67437010T>G GRCh38
NC_000016.9:g.67470913T>G , CM000678.1:g.67470913T>G GRCh37
NC_000016.8:g.66028414T>G NCBI36
NG_011482.1:g.49177A>C
NG_016549.1:g.10878T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*7T>G MANE Select ENSP00000316786.5:n.*7T>G
ENST00000326152.5:c.*7T>G ENSP00000316786.5:n.*7T>G
NM_000196.3:c.*7T>G NP_000187.3:n.*7T>G
NM_000196.4:c.*7T>G MANE Select NP_000187.3:n.*7T>G
Search 100 bp 5'
Search 100 bp 3'