Canonical Allele Identifier: CA8110843
Gene: HSD11B2 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*7T>C MANE Select ENSP00000316786.5:n.*7T>C
ENST00000326152.5:c.*7T>C ENSP00000316786.5:n.*7T>C
NM_000196.3:c.*7T>C NP_000187.3:n.*7T>C
NM_000196.4:c.*7T>C MANE Select NP_000187.3:n.*7T>C
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