Canonical Allele Identifier: CA2633779209

Gene: HSD11B2

Linked Data

• gnomAD v4: 16-67436080-AGGGCCTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436081_67436088del , CM000678.2:g.67436081_67436088del	GRCh38
NC_000016.9:g.67469984_67469991del , CM000678.1:g.67469984_67469991del	GRCh37
NC_000016.8:g.66027485_66027492del	NCBI36
NG_011482.1:g.50099_50106del
NG_016549.1:g.9949_9956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.603_610del MANE Select	ENSP00000316786.5:p.Lys201AsnfsTer?
ENST00000326152.5:c.603_610del	ENSP00000316786.5:p.Lys201AsnfsTer?
ENST00000566606.1:c.581_588del	ENSP00000473429.1:n.581_588del
ENST00000567684.2:n.466_473del
NM_000196.3:c.603_610del	NP_000187.3:p.Lys201AsnfsTer?
NM_000196.4:c.603_610del MANE Select	NP_000187.3:p.Lys201AsnfsTer?