Canonical Allele Identifier: CA8110796
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs370615893
ExAC: 16:67470692 G / A
gnomAD v2: 16-67470692-G-A
gnomAD v3: 16-67436789-G-A
gnomAD v4: 16-67436789-G-A
MyVariant Identifiers: chr16:g.67470692G>A (hg19) chr16:g.67436789G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436789G>A , CM000678.2:g.67436789G>A GRCh38
NC_000016.9:g.67470692G>A , CM000678.1:g.67470692G>A GRCh37
NC_000016.8:g.66028193G>A NCBI36
NG_011482.1:g.49398C>T
NG_016549.1:g.10657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1004G>A MANE Select ENSP00000316786.5:p.Arg335His
ENST00000326152.5:c.1004G>A ENSP00000316786.5:p.Arg335His
NM_000196.3:c.1004G>A NP_000187.3:p.Arg335His
NM_000196.4:c.1004G>A MANE Select NP_000187.3:p.Arg335His
Search 100 bp 5'
Search 100 bp 3'