Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12383504A>G , CM000686.2:g.12383504A>G | GRCh38 |
| NC_000024.9:g.14495307A>G , CM000686.1:g.14495307A>G | GRCh37 |
| NC_000024.8:g.13005315A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382965.3:n.317-4755T>C (GYG2P1) | ||
| ENST00000689264.1:n.402-4755T>C (GYG2P1) | ||
| ENST00000443820.2:n.1286+201A>G (ARSDP1) | ||
| ENST00000651802.1:n.450+22880T>C (GYG2P1) | ||
| ENST00000651835.1:n.319+23292T>C (GYG2P1) | ||
| ENST00000382966.5:n.283+23292T>C (GYG2P1) | ||
| ENST00000443820.1:n.734+201A>G (ARSDP1) | ||
| ENST00000493160.5:n.803-174T>C (GYG2P1) | ||
| XR_001756061.1:n.609-4755T>C |