Canonical Allele Identifier: CA496082371
Gene: HSD11B2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.67435830C>T
GRCh37 chr16:g.67469733C>T
gnomAD v3:
16:67435830 C / T
gnomAD v4:
chr16-67435830-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV002193209
ClinVar Variation:
1661702
dbSNP:
5479
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.468C>T MANE Select ENSP00000316786.5:p.Thr156=
ENST00000326152.5:c.468C>T ENSP00000316786.5:p.Thr156=
ENST00000566606.1:c.446C>T ENSP00000473429.1:n.446C>T
ENST00000567684.2:n.331C>T
NM_000196.3:c.468C>T NP_000187.3:p.Thr156=
NM_000196.4:c.468C>T MANE Select NP_000187.3:p.Thr156=
Search 100 bp 5'
Search 100 bp 3'