Canonical Allele Identifier: CA8110721
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs765985616
ExAC: 16:67470178 GCCTATGGAA / G
gnomAD v2: 16-67470178-GCCTATGGAA-G
gnomAD v3: 16-67436275-GCCTATGGAA-G
gnomAD v4: 16-67436275-GCCTATGGAA-G
MyVariant Identifiers: chr16:g.67470179_67470187del (hg19) chr16:g.67436277_67436285del (hg38) chr16:g.67436276_67436284del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436279_67436287del , CM000678.2:g.67436279_67436287del GRCh38
NC_000016.9:g.67470182_67470190del , CM000678.1:g.67470182_67470190del GRCh37
NC_000016.8:g.66027683_66027691del NCBI36
NG_011482.1:g.49903_49911del
NG_016549.1:g.10147_10155del

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.695_703del MANE Select ENSP00000316786.5:p.Tyr232_Thr234del
ENST00000326152.5:c.695_703del ENSP00000316786.5:p.Tyr232_Thr234del
NM_000196.3:c.695_703del NP_000187.3:p.Tyr232_Thr234del
NM_000196.4:c.695_703del MANE Select NP_000187.3:p.Tyr232_Thr234del
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