Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379801G>A , CM000686.2:g.12379801G>A | GRCh38 |
| NC_000024.9:g.14491604G>A , CM000686.1:g.14491604G>A | GRCh37 |
| NC_000024.8:g.13001612G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-1052C>T (GYG2P1) | ||
| ENST00000689264.1:n.402-1052C>T (GYG2P1) | ||
| ENST00000443820.2:n.989+1979G>A (ARSDP1) | ||
| ENST00000651802.1:n.450+26583C>T (GYG2P1) | ||
| ENST00000651835.1:n.319+26995C>T (GYG2P1) | ||
| ENST00000382966.5:n.284-25030C>T (GYG2P1) | ||
| ENST00000443820.1:n.438-2535G>A (ARSDP1) | ||
| XR_001756061.1:n.609-1052C>T |