Gene Facts External Data Attribution

HGNC Symbol
CC2D2B (HGNC:31666) HGNC Entrez Ensembl UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
coiled-coil and C2 domain containing 2B
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C10orf130, C10orf131
Alias symbols
bA248J23.4, bA690P14.3
%HI
39.36(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.77(Read more about gnomAD LOEUF score)
Cytoband
10q24.1
Genomic Coordinates
GRCh37/hg19: chr10:97667732-97793502 NCBI Ensembl UCSC
GRCh38/hg38: chr10:95907671-96033745 NCBI Ensembl UCSC
MANE Select Transcript
NM_001349008.3 ENST00000646931.3 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5503
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)