Canonical Allele Identifier: CA2229310947
Gene: HSD11B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436970_67436971delinsGA , CM000678.2:g.67436970_67436971delinsGA GRCh38
NC_000016.9:g.67470873_67470874delinsGA , CM000678.1:g.67470873_67470874delinsGA GRCh37
NC_000016.8:g.66028374_66028375delinsGA NCBI36
NG_011482.1:g.49216_49217delinsTC
NG_016549.1:g.10838_10839delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1185_1186delinsGA MANE Select ENSP00000316786.5:p.Leu395=
ENST00000326152.5:c.1185_1186delinsGA ENSP00000316786.5:p.Leu395=
NM_000196.3:c.1185_1186delinsGA NP_000187.3:p.Leu395=
NM_000196.4:c.1185_1186delinsGA MANE Select NP_000187.3:p.Leu395=
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