Canonical Allele Identifier: CA2633777294
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436912-T-TGCAGCCTGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436913_67436921dup , CM000678.2:g.67436913_67436921dup GRCh38
NC_000016.9:g.67470816_67470824dup , CM000678.1:g.67470816_67470824dup GRCh37
NC_000016.8:g.66028317_66028325dup NCBI36
NG_011482.1:g.49266_49274dup
NG_016549.1:g.10781_10789dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1128_1136dup MANE Select ENSP00000316786.5:p.Gly379_Gln380insGlnProGly
ENST00000326152.5:c.1128_1136dup ENSP00000316786.5:p.Gly379_Gln380insGlnProGly
NM_000196.3:c.1128_1136dup NP_000187.3:p.Gly379_Gln380insGlnProGly
NM_000196.4:c.1128_1136dup MANE Select NP_000187.3:p.Gly379_Gln380insGlnProGly
Search 100 bp 5'
Search 100 bp 3'