Assay Details
Target Gene Details
Entrez Gene ID: | 1412 |
Gene Name: | crystallin beta A2 |
Gene Aliases: |
CTRCT42 |
Location: |
Chr.2:218990190-218993405 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CRYBA2 | NM_057093.1 | 2 | 452 | NP_476434.1 |
NM_057094.1 | 3 | 258 | NP_476435.1 | |
AF166331.1 | 3 | 252 | AAD45388.1 | |
BC006285.2 | 2 | 452 | AAH06285.1 | |
BF726935.1 | 3 | 266 | ||
BT007447.1 | 2 | 223 | AAP36115.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv584491 | Chr.2:218881839 - 219069626 on Build GRCh38 | Loss | WNT10A FEV LOC100129175 CDK5R2 CRYBA2 MIR3131 LINC01494 CFAP65 MIR375 IHH LINC00608 |
nsv834542 | Chr.2:218841280 - 219013962 on Build GRCh38 | Gain | WNT10A FEV LOC100129175 CDK5R2 CRYBA2 LINC01494 CFAP65 MIR375 LINC00608 WNT6 |
nsv954839 | Chr.2:218980979 - 219032878 on Build GRCh38 | Deletion | FEV LOC100129175 CRYBA2 CFAP65 MIR375 |
dgv7296n54 | Chr.2:218833281 - 218998934 on Build GRCh38 | Loss | WNT10A FEV CDK5R2 CRYBA2 LINC01494 LINC00608 WNT6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |