Canonical Allele Identifier: CA8110650
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs369707935
ExAC: 16:67469882 C / T
gnomAD v2: 16-67469882-C-T
gnomAD v3: 16-67435979-C-T
gnomAD v4: 16-67435979-C-T
MyVariant Identifiers: chr16:g.67469882C>T (hg19) chr16:g.67435979C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435979C>T , CM000678.2:g.67435979C>T GRCh38
NC_000016.9:g.67469882C>T , CM000678.1:g.67469882C>T GRCh37
NC_000016.8:g.66027383C>T NCBI36
NG_016549.1:g.9847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.501C>T MANE Select ENSP00000316786.5:p.Asn167=
ENST00000326152.5:c.501C>T ENSP00000316786.5:p.Asn167=
ENST00000566606.1:c.479C>T ENSP00000473429.1:n.479C>T
ENST00000567684.2:n.364C>T
NM_000196.3:c.501C>T NP_000187.3:p.Asn167=
NM_000196.4:c.501C>T MANE Select NP_000187.3:p.Asn167=
Search 100 bp 5'
Search 100 bp 3'