Canonical Allele Identifier: CA2229310850
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs2040980777
gnomAD v4: 16-67436913-G-GCAGCCTGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436923_67436931dup , CM000678.2:g.67436923_67436931dup GRCh38
NC_000016.9:g.67470826_67470834dup , CM000678.1:g.67470826_67470834dup GRCh37
NC_000016.8:g.66028327_66028335dup NCBI36
NG_011482.1:g.49265_49273dup
NG_016549.1:g.10791_10799dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1138_1146dup MANE Select ENSP00000316786.5:p.Gly382_Thr383insGlnProGly
ENST00000326152.5:c.1138_1146dup ENSP00000316786.5:p.Gly382_Thr383insGlnProGly
NM_000196.3:c.1138_1146dup NP_000187.3:p.Gly382_Thr383insGlnProGly
NM_000196.4:c.1138_1146dup MANE Select NP_000187.3:p.Gly382_Thr383insGlnProGly
Search 100 bp 5'
Search 100 bp 3'