Canonical Allele Identifier: CA396282025
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v2: 16-67470580-G-C
gnomAD v4: 16-67436677-G-C
MyVariant Identifiers: chr16:g.67470580G>C (hg19) chr16:g.67470580_67470583delinsCACT (hg19) chr16:g.67436677G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436677G>C , CM000678.2:g.67436677G>C GRCh38
NC_000016.9:g.67470580G>C , CM000678.1:g.67470580G>C GRCh37
NC_000016.8:g.66028081G>C NCBI36
NG_011482.1:g.49510C>G
NG_016549.1:g.10545G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.892G>C MANE Select ENSP00000316786.5:p.Asp298His
ENST00000326152.5:c.892G>C ENSP00000316786.5:p.Asp298His
NM_000196.3:c.892G>C NP_000187.3:p.Asp298His
NM_000196.4:c.892G>C MANE Select NP_000187.3:p.Asp298His
Search 100 bp 5'
Search 100 bp 3'