Canonical Allele Identifier: CA919730041
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1567531033

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436898_67436901del , CM000678.2:g.67436898_67436901del GRCh38
NC_000016.9:g.67470801_67470804del , CM000678.1:g.67470801_67470804del GRCh37
NC_000016.8:g.66028302_66028305del NCBI36
NG_011482.1:g.49289_49292del
NG_016549.1:g.10766_10769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1113_1116del MANE Select ENSP00000316786.5:p.Pro373GlufsTer22
ENST00000326152.5:c.1113_1116del ENSP00000316786.5:p.Pro373GlufsTer22
NM_000196.3:c.1113_1116del NP_000187.3:p.Pro373GlufsTer22
NM_000196.4:c.1113_1116del MANE Select NP_000187.3:p.Pro373GlufsTer22