Canonical Allele Identifier: CA212941
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12102
ClinVar RCV Id: RCV000012884
dbSNP Id: rs794726670

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436680_67436682del , CM000678.2:g.67436680_67436682del GRCh38
NC_000016.9:g.67470583_67470585del , CM000678.1:g.67470583_67470585del GRCh37
NC_000016.8:g.66028084_66028086del NCBI36
NG_011482.1:g.49507_49509del
NG_016549.1:g.10548_10550del

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.895_897del MANE Select ENSP00000316786.5:p.Tyr299del
ENST00000326152.5:c.895_897del ENSP00000316786.5:p.Tyr299del
NM_000196.3:c.895_897del NP_000187.3:p.Tyr299del
NM_000196.4:c.895_897del MANE Select NP_000187.3:p.Tyr299del