Canonical Allele Identifier: CA282322481
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs951605681
MyVariant Identifiers: chr16:g.67469962T>A (hg19) chr16:g.67436059T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436059T>A , CM000678.2:g.67436059T>A GRCh38
NC_000016.9:g.67469962T>A , CM000678.1:g.67469962T>A GRCh37
NC_000016.8:g.66027463T>A NCBI36
NG_011482.1:g.50128A>T
NG_016549.1:g.9927T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.581T>A MANE Select ENSP00000316786.5:p.Phe194Tyr
ENST00000326152.5:c.581T>A ENSP00000316786.5:p.Phe194Tyr
ENST00000566606.1:c.559T>A ENSP00000473429.1:n.559T>A
ENST00000567684.2:n.444T>A
NM_000196.3:c.581T>A NP_000187.3:p.Phe194Tyr
NM_000196.4:c.581T>A MANE Select NP_000187.3:p.Phe194Tyr
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