Canonical Allele Identifier: CA8110624
Gene: HSD11B2 HGNC NCBI
COSMIC:
COSM4129203 (not active)
MyVariant.info:
GRCh38 chr16:g.67435830C>A
GRCh37 chr16:g.67469733C>A
gnomAD v2:
16:67469733 C / A
gnomAD v3:
16:67435830 C / A
gnomAD v4:
chr16-67435830-C-A
Joint Max Group AF 0.19259154 (AFR)
Genomes Max Group AF 0.18704602 (AFR)
Exomes Max Group AF 0.19703057 (AFR)
ClinVar RCV:
RCV000711978
RCV001702552
ClinVar Variation:
586028
dbSNP:
5479
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435830C>A , CM000678.2:g.67435830C>A GRCh38
NC_000016.9:g.67469733C>A , CM000678.1:g.67469733C>A GRCh37
NC_000016.8:g.66027234C>A NCBI36
NG_016549.1:g.9698C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.468C>A MANE Select ENSP00000316786.5:p.Thr156=
ENST00000326152.5:c.468C>A ENSP00000316786.5:p.Thr156=
ENST00000566606.1:c.446C>A ENSP00000473429.1:n.446C>A
ENST00000567684.2:n.331C>A
NM_000196.3:c.468C>A NP_000187.3:p.Thr156=
NM_000196.4:c.468C>A MANE Select NP_000187.3:p.Thr156=
Search 100 bp 5'
Search 100 bp 3'