Canonical Allele Identifier: CA623119579
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1275689343
gnomAD v2: 16-67470092-G-A
gnomAD v4: 16-67436189-G-A
MyVariant Identifiers: chr16:g.67470092G>A (hg19) chr16:g.67436189G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436189G>A , CM000678.2:g.67436189G>A GRCh38
NC_000016.9:g.67470092G>A , CM000678.1:g.67470092G>A GRCh37
NC_000016.8:g.66027593G>A NCBI36
NG_011482.1:g.49998C>T
NG_016549.1:g.10057G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.664+47G>A MANE Select ENSP00000316786.5:n.664+47G>A
ENST00000326152.5:c.664+47G>A ENSP00000316786.5:n.664+47G>A
ENST00000567684.2:n.527+47G>A
NM_000196.3:c.664+47G>A NP_000187.3:n.664+47G>A
NM_000196.4:c.664+47G>A MANE Select NP_000187.3:n.664+47G>A
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