Canonical Allele Identifier: CA282323483
Gene: HSD11B2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.67436795G>A
GRCh37 chr16:g.67470698G>A
Revel Score:
ENST00000326152 (MANE Select) 0.511
gnomAD v3:
16:67436795 G / A
gnomAD v4:
chr16-67436795-G-A
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000262 (NFE)
dbSNP:
28934593
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436795G>A , CM000678.2:g.67436795G>A GRCh38
NC_000016.9:g.67470698G>A , CM000678.1:g.67470698G>A GRCh37
NC_000016.8:g.66028199G>A NCBI36
NG_011482.1:g.49392C>T
NG_016549.1:g.10663G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1010G>A MANE Select ENSP00000316786.5:p.Arg337His
ENST00000326152.5:c.1010G>A ENSP00000316786.5:p.Arg337His
NM_000196.3:c.1010G>A NP_000187.3:p.Arg337His
NM_000196.4:c.1010G>A MANE Select NP_000187.3:p.Arg337His
Search 100 bp 5'
Search 100 bp 3'