Canonical Allele Identifier: CA8110713
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs750670606
ExAC: 16:67470129 C / G
gnomAD v2: 16-67470129-C-G
gnomAD v4: 16-67436226-C-G
MyVariant Identifiers: chr16:g.67470129C>G (hg19) chr16:g.67436226C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436226C>G , CM000678.2:g.67436226C>G GRCh38
NC_000016.9:g.67470129C>G , CM000678.1:g.67470129C>G GRCh37
NC_000016.8:g.66027630C>G NCBI36
NG_011482.1:g.49961G>C
NG_016549.1:g.10094C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.665-23C>G MANE Select ENSP00000316786.5:n.665-23C>G
ENST00000326152.5:c.665-23C>G ENSP00000316786.5:n.665-23C>G
ENST00000567684.2:n.528-23C>G
NM_000196.3:c.665-23C>G NP_000187.3:n.665-23C>G
NM_000196.4:c.665-23C>G MANE Select NP_000187.3:n.665-23C>G
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