Canonical Allele Identifier: CA282323197
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2869906
ClinVar RCV Id: RCV003700916
dbSNP Id: rs1055761707
gnomAD v2: 16-67470525-C-T
gnomAD v3: 16-67436622-C-T
gnomAD v4: 16-67436622-C-T
MyVariant Identifiers: chr16:g.67470525C>T (hg19) chr16:g.67436622C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436622C>T , CM000678.2:g.67436622C>T GRCh38
NC_000016.9:g.67470525C>T , CM000678.1:g.67470525C>T GRCh37
NC_000016.8:g.66028026C>T NCBI36
NG_011482.1:g.49565G>A
NG_016549.1:g.10490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.837C>T MANE Select ENSP00000316786.5:p.Arg279=
ENST00000326152.5:c.837C>T ENSP00000316786.5:p.Arg279=
NM_000196.3:c.837C>T NP_000187.3:p.Arg279=
NM_000196.4:c.837C>T MANE Select NP_000187.3:p.Arg279=
Search 100 bp 5'
Search 100 bp 3'