Canonical Allele Identifier: CA2576029196
Gene: HSD11B2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436422_67436423insGGGGGA , CM000678.2:g.67436422_67436423insGGGGGA GRCh38
NC_000016.9:g.67470325_67470326insGGGGGA , CM000678.1:g.67470325_67470326insGGGGGA GRCh37
NC_000016.8:g.66027826_66027827insGGGGGA NCBI36
NG_011482.1:g.49764_49765insTCCCCC
NG_016549.1:g.10290_10291insGGGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.802+36_802+37insGGGGGA MANE Select ENSP00000316786.5:n.802+36_802+37insGGGGGA
ENST00000326152.5:c.802+36_802+37insGGGGGA ENSP00000316786.5:n.802+36_802+37insGGGGGA
NM_000196.3:c.802+36_802+37insGGGGGA NP_000187.3:n.802+36_802+37insGGGGGA
NM_000196.4:c.802+36_802+37insGGGGGA MANE Select NP_000187.3:n.802+36_802+37insGGGGGA
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