Canonical Allele Identifier: CA213041
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 31130
ClinVar RCV Id: RCV000024126
dbSNP Id: rs376023420
ExAC: 16:67470059 C / T
gnomAD v2: 16-67470059-C-T
gnomAD v3: 16-67436156-C-T
gnomAD v4: 16-67436156-C-T
MyVariant Identifiers: chr16:g.67470059C>T (hg19) chr16:g.67436156C>T (hg38)
PubMed: PMID:7670488
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436156C>T , CM000678.2:g.67436156C>T GRCh38
NC_000016.9:g.67470059C>T , CM000678.1:g.67470059C>T GRCh37
NC_000016.8:g.66027560C>T NCBI36
NG_011482.1:g.50031G>A
NG_016549.1:g.10024C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.664+14C>T MANE Select ENSP00000316786.5:n.664+14C>T
ENST00000326152.5:c.664+14C>T ENSP00000316786.5:n.664+14C>T
ENST00000567684.2:n.527+14C>T
NM_000196.3:c.664+14C>T NP_000187.3:n.664+14C>T
NM_000196.4:c.664+14C>T MANE Select NP_000187.3:n.664+14C>T
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