Canonical Allele Identifier: CA8110736
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs754503819
ExAC: 16:67470303 CTGGGGGTGGGG / C
gnomAD v2: 16-67470303-CTGGGGGTGGGG-C
gnomAD v3: 16-67436400-CTGGGGGTGGGG-C
gnomAD v4: 16-67436400-CTGGGGGTGGGG-C
MyVariant Identifiers: chr16:g.67470304_67470314del (hg19) chr16:g.67436401_67436411del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436412_67436422del , CM000678.2:g.67436412_67436422del GRCh38
NC_000016.9:g.67470315_67470325del , CM000678.1:g.67470315_67470325del GRCh37
NC_000016.8:g.66027816_66027826del NCBI36
NG_011482.1:g.49776_49786del
NG_016549.1:g.10280_10290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.802+26_802+36del MANE Select ENSP00000316786.5:n.802+26_802+36del
ENST00000326152.5:c.802+26_802+36del ENSP00000316786.5:n.802+26_802+36del
NM_000196.3:c.802+26_802+36del NP_000187.3:n.802+26_802+36del
NM_000196.4:c.802+26_802+36del MANE Select NP_000187.3:n.802+26_802+36del
Search 100 bp 5'
Search 100 bp 3'