Canonical Allele Identifier: CA496082672
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs5480
gnomAD v3: 16-67436066-G-T
gnomAD v4: 16-67436066-G-T
MyVariant Identifiers: chr16:g.67469969G>T (hg19) chr16:g.67436066G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436066G>T , CM000678.2:g.67436066G>T GRCh38
NC_000016.9:g.67469969G>T , CM000678.1:g.67469969G>T GRCh37
NC_000016.8:g.66027470G>T NCBI36
NG_011482.1:g.50121C>A
NG_016549.1:g.9934G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.588G>T MANE Select ENSP00000316786.5:p.Ala196=
ENST00000326152.5:c.588G>T ENSP00000316786.5:p.Ala196=
ENST00000566606.1:c.566G>T ENSP00000473429.1:n.566G>T
ENST00000567684.2:n.451G>T
NM_000196.3:c.588G>T NP_000187.3:p.Ala196=
NM_000196.4:c.588G>T MANE Select NP_000187.3:p.Ala196=
Search 100 bp 5'
Search 100 bp 3'