Canonical Allele Identifier: CA2576029159
Gene: HSD11B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436106_67436108del , CM000678.2:g.67436106_67436108del GRCh38
NC_000016.9:g.67470009_67470011del , CM000678.1:g.67470009_67470011del GRCh37
NC_000016.8:g.66027510_66027512del NCBI36
NG_011482.1:g.50079_50081del
NG_016549.1:g.9974_9976del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.628_630del MANE Select ENSP00000316786.5:p.Ser210del
ENST00000326152.5:c.628_630del ENSP00000316786.5:p.Ser210del
ENST00000566606.1:c.606_608del ENSP00000473429.1:n.606_608del
ENST00000567684.2:n.491_493del
NM_000196.3:c.628_630del NP_000187.3:p.Ser210del
NM_000196.4:c.628_630del MANE Select NP_000187.3:p.Ser210del
Search 100 bp 5'
Search 100 bp 3'