Canonical Allele Identifier: CA396282462
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2186323
ClinVar RCV Id: RCV002606552
dbSNP Id: rs1432020173
gnomAD v2: 16-67470633-G-A
gnomAD v3: 16-67436730-G-A
gnomAD v4: 16-67436730-G-A
COSMIC: COSM2994871
MyVariant Identifiers: chr16:g.67470633G>A (hg19) chr16:g.67436730G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436730G>A , CM000678.2:g.67436730G>A GRCh38
NC_000016.9:g.67470633G>A , CM000678.1:g.67470633G>A GRCh37
NC_000016.8:g.66028134G>A NCBI36
NG_011482.1:g.49457C>T
NG_016549.1:g.10598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.945G>A MANE Select ENSP00000316786.5:p.Met315Ile
ENST00000326152.5:c.945G>A ENSP00000316786.5:p.Met315Ile
NM_000196.3:c.945G>A NP_000187.3:p.Met315Ile
NM_000196.4:c.945G>A MANE Select NP_000187.3:p.Met315Ile
Search 100 bp 5'
Search 100 bp 3'