Canonical Allele Identifier: CA396279116
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436031-T-C
MyVariant Identifiers: chr16:g.67469934T>C (hg19) chr16:g.67436031T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436031T>C , CM000678.2:g.67436031T>C GRCh38
NC_000016.9:g.67469934T>C , CM000678.1:g.67469934T>C GRCh37
NC_000016.8:g.66027435T>C NCBI36
NG_011482.1:g.50156A>G
NG_016549.1:g.9899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.553T>C MANE Select ENSP00000316786.5:p.Phe185Leu
ENST00000326152.5:c.553T>C ENSP00000316786.5:p.Phe185Leu
ENST00000566606.1:c.531T>C ENSP00000473429.1:n.531T>C
ENST00000567684.2:n.416T>C
NM_000196.3:c.553T>C NP_000187.3:p.Phe185Leu
NM_000196.4:c.553T>C MANE Select NP_000187.3:p.Phe185Leu
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