Canonical Allele Identifier: CA396279316
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67469963T>A (hg19) chr16:g.67436060T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436060T>A , CM000678.2:g.67436060T>A GRCh38
NC_000016.9:g.67469963T>A , CM000678.1:g.67469963T>A GRCh37
NC_000016.8:g.66027464T>A NCBI36
NG_011482.1:g.50127A>T
NG_016549.1:g.9928T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.582T>A MANE Select ENSP00000316786.5:p.Phe194Leu
ENST00000326152.5:c.582T>A ENSP00000316786.5:p.Phe194Leu
ENST00000566606.1:c.560T>A ENSP00000473429.1:n.560T>A
ENST00000567684.2:n.445T>A
NM_000196.3:c.582T>A NP_000187.3:p.Phe194Leu
NM_000196.4:c.582T>A MANE Select NP_000187.3:p.Phe194Leu
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