Canonical Allele Identifier: CA396282384
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67470626T>A (hg19) chr16:g.67436723T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436723T>A , CM000678.2:g.67436723T>A GRCh38
NC_000016.9:g.67470626T>A , CM000678.1:g.67470626T>A GRCh37
NC_000016.8:g.66028127T>A NCBI36
NG_011482.1:g.49464A>T
NG_016549.1:g.10591T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.938T>A MANE Select ENSP00000316786.5:p.Leu313Gln
ENST00000326152.5:c.938T>A ENSP00000316786.5:p.Leu313Gln
NM_000196.3:c.938T>A NP_000187.3:p.Leu313Gln
NM_000196.4:c.938T>A MANE Select NP_000187.3:p.Leu313Gln
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