Canonical Allele Identifier: CA2229310950
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436972_67436973delinsGC , CM000678.2:g.67436972_67436973delinsGC GRCh38
NC_000016.9:g.67470875_67470876delinsGC , CM000678.1:g.67470875_67470876delinsGC GRCh37
NC_000016.8:g.66028376_66028377delinsGC NCBI36
NG_011482.1:g.49214_49215delinsGC
NG_016549.1:g.10840_10841delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1187_1188delinsGC MANE Select ENSP00000316786.5:p.Ser396=
ENST00000326152.5:c.1187_1188delinsGC ENSP00000316786.5:p.Ser396=
NM_000196.3:c.1187_1188delinsGC NP_000187.3:p.Ser396=
NM_000196.4:c.1187_1188delinsGC MANE Select NP_000187.3:p.Ser396=