Canonical Allele Identifier: CA8110761
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs770730795
ExAC: 16:67470505 G / GT
gnomAD v2: 16-67470505-G-GT
gnomAD v3: 16-67436602-G-GT
gnomAD v4: 16-67436602-G-GT
MyVariant Identifiers: chr16:g.67470505_67470506insT (hg19) chr16:g.67436602_67436603insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436603dup , CM000678.2:g.67436603dup GRCh38
NC_000016.9:g.67470506dup , CM000678.1:g.67470506dup GRCh37
NC_000016.8:g.66028007dup NCBI36
NG_011482.1:g.49584dup
NG_016549.1:g.10471dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.818dup MANE Select ENSP00000316786.5:p.Gln275SerfsTer?
ENST00000326152.5:c.818dup ENSP00000316786.5:p.Gln275SerfsTer?
NM_000196.3:c.818dup NP_000187.3:p.Gln275SerfsTer?
NM_000196.4:c.818dup MANE Select NP_000187.3:p.Gln275SerfsTer?
Search 100 bp 5'
Search 100 bp 3'