Canonical Allele Identifier: CA2576029157
Gene: HSD11B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436064del , CM000678.2:g.67436064del GRCh38
NC_000016.9:g.67469967del , CM000678.1:g.67469967del GRCh37
NC_000016.8:g.66027468del NCBI36
NG_011482.1:g.50123del
NG_016549.1:g.9932del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.586del MANE Select ENSP00000316786.5:p.Ala196ArgfsTer4
ENST00000326152.5:c.586del ENSP00000316786.5:p.Ala196ArgfsTer4
ENST00000566606.1:c.564del ENSP00000473429.1:n.564del
ENST00000567684.2:n.449del
NM_000196.3:c.586del NP_000187.3:p.Ala196ArgfsTer4
NM_000196.4:c.586del MANE Select NP_000187.3:p.Ala196ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'