CC2D2B |
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)