Canonical Allele Identifier: CA396279130
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2771416
ClinVar RCV Id: RCV003574260
gnomAD v4: 16-67436033-C-G
MyVariant Identifiers: chr16:g.67469936C>G (hg19) chr16:g.67436033C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.555C>G MANE Select ENSP00000316786.5:p.Phe185Leu
ENST00000326152.5:c.555C>G ENSP00000316786.5:p.Phe185Leu
ENST00000566606.1:c.533C>G ENSP00000473429.1:n.533C>G
ENST00000567684.2:n.418C>G
NM_000196.3:c.555C>G NP_000187.3:p.Phe185Leu
NM_000196.4:c.555C>G MANE Select NP_000187.3:p.Phe185Leu
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