Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379881T= , CM000686.2:g.12379881T= | GRCh38 |
| NC_000024.9:g.14491684T= , CM000686.1:g.14491684T= | GRCh37 |
| NC_000024.8:g.13001692T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000382965.3:n.317-1132A= (GYG2P1) | |
| ENST00000382966.5:n.284-25110A= (GYG2P1) | |
| ENST00000443820.1:n.438-2455T= (ARSDP1) | |
| ENST00000443820.2:n.989+2059T= (ARSDP1) | |
| ENST00000651802.1:n.450+26503A= (GYG2P1) | |
| ENST00000651835.1:n.319+26915A= (GYG2P1) | |
| ENST00000689264.1:n.402-1132A= (GYG2P1) | |
| XR_001756061.1:n.609-1132A= |