Canonical Allele Identifier: CA8110787
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs752264563
ExAC: 16:67470639 C / T
gnomAD v2: 16-67470639-C-T
gnomAD v4: 16-67436736-C-T
MyVariant Identifiers: chr16:g.67470639C>T (hg19) chr16:g.67436736C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436736C>T , CM000678.2:g.67436736C>T GRCh38
NC_000016.9:g.67470639C>T , CM000678.1:g.67470639C>T GRCh37
NC_000016.8:g.66028140C>T NCBI36
NG_011482.1:g.49451G>A
NG_016549.1:g.10604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.951C>T MANE Select ENSP00000316786.5:p.Asp317=
ENST00000326152.5:c.951C>T ENSP00000316786.5:p.Asp317=
NM_000196.3:c.951C>T NP_000187.3:p.Asp317=
NM_000196.4:c.951C>T MANE Select NP_000187.3:p.Asp317=
Search 100 bp 5'
Search 100 bp 3'