Canonical Allele Identifier: CA2229310000
Gene: HSD11B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436275_67436284delinsGCCTATGGAA , CM000678.2:g.67436275_67436284delinsGCCTATGGAA GRCh38
NC_000016.9:g.67470178_67470187delinsGCCTATGGAA , CM000678.1:g.67470178_67470187delinsGCCTATGGAA GRCh37
NC_000016.8:g.66027679_66027688delinsGCCTATGGAA NCBI36
NG_011482.1:g.49903_49912delinsTTCCATAGGC
NG_016549.1:g.10143_10152delinsGCCTATGGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.691_700delinsGCCTATGGAA MANE Select ENSP00000316786.5:p.Ala231=
ENST00000326152.5:c.691_700delinsGCCTATGGAA ENSP00000316786.5:p.Ala231=
NM_000196.3:c.691_700delinsGCCTATGGAA NP_000187.3:p.Ala231=
NM_000196.4:c.691_700delinsGCCTATGGAA MANE Select NP_000187.3:p.Ala231=
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