Canonical Allele Identifier: CA8110654
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs563098276
ExAC: 16:67469898 G / A
gnomAD v2: 16-67469898-G-A
gnomAD v3: 16-67435995-G-A
gnomAD v4: 16-67435995-G-A
MyVariant Identifiers: chr16:g.67469898G>A (hg19) chr16:g.67435995G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435995G>A , CM000678.2:g.67435995G>A GRCh38
NC_000016.9:g.67469898G>A , CM000678.1:g.67469898G>A GRCh37
NC_000016.8:g.66027399G>A NCBI36
NG_016549.1:g.9863G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.517G>A MANE Select ENSP00000316786.5:p.Val173Ile
ENST00000326152.5:c.517G>A ENSP00000316786.5:p.Val173Ile
ENST00000566606.1:c.495G>A ENSP00000473429.1:n.495G>A
ENST00000567684.2:n.380G>A
NM_000196.3:c.517G>A NP_000187.3:p.Val173Ile
NM_000196.4:c.517G>A MANE Select NP_000187.3:p.Val173Ile
Search 100 bp 5'
Search 100 bp 3'