Canonical Allele Identifier: CA8110667
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2432535
ClinVar RCV Id: RCV003135623
dbSNP Id: rs560632514
ExAC: 16:67469967 G / A
gnomAD v2: 16-67469967-G-A
gnomAD v3: 16-67436064-G-A
gnomAD v4: 16-67436064-G-A
COSMIC: COSM1378928
MyVariant Identifiers: chr16:g.67469967G>A (hg19) chr16:g.67436064G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436064G>A , CM000678.2:g.67436064G>A GRCh38
NC_000016.9:g.67469967G>A , CM000678.1:g.67469967G>A GRCh37
NC_000016.8:g.66027468G>A NCBI36
NG_011482.1:g.50123C>T
NG_016549.1:g.9932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.586G>A MANE Select ENSP00000316786.5:p.Ala196Thr
ENST00000326152.5:c.586G>A ENSP00000316786.5:p.Ala196Thr
ENST00000566606.1:c.564G>A ENSP00000473429.1:n.564G>A
ENST00000567684.2:n.449G>A
NM_000196.3:c.586G>A NP_000187.3:p.Ala196Thr
NM_000196.4:c.586G>A MANE Select NP_000187.3:p.Ala196Thr
Search 100 bp 5'
Search 100 bp 3'