Canonical Allele Identifier: CA8110777
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs775627842
ExAC: 16:67470614 ACTCGCTACGC / A
gnomAD v2: 16-67470614-ACTCGCTACGC-A
MyVariant Identifiers: chr16:g.67470615_67470624del (hg19) chr16:g.67436713_67436722del (hg38) chr16:g.67436712_67436721del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436714_67436723del , CM000678.2:g.67436714_67436723del GRCh38
NC_000016.9:g.67470617_67470626del , CM000678.1:g.67470617_67470626del GRCh37
NC_000016.8:g.66028118_66028127del NCBI36
NG_011482.1:g.49466_49475del
NG_016549.1:g.10582_10591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.929_938del MANE Select ENSP00000316786.5:p.Ser310TrpfsTer10
ENST00000326152.5:c.929_938del ENSP00000316786.5:p.Ser310TrpfsTer10
NM_000196.3:c.929_938del NP_000187.3:p.Ser310TrpfsTer10
NM_000196.4:c.929_938del MANE Select NP_000187.3:p.Ser310TrpfsTer10
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