Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379847G>A , CM000686.2:g.12379847G>A | GRCh38 |
| NC_000024.9:g.14491650G>A , CM000686.1:g.14491650G>A | GRCh37 |
| NC_000024.8:g.13001658G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-1098C>T (GYG2P1) | ||
| ENST00000689264.1:n.402-1098C>T (GYG2P1) | ||
| ENST00000443820.2:n.989+2025G>A (ARSDP1) | ||
| ENST00000651802.1:n.450+26537C>T (GYG2P1) | ||
| ENST00000651835.1:n.319+26949C>T (GYG2P1) | ||
| ENST00000382966.5:n.284-25076C>T (GYG2P1) | ||
| ENST00000443820.1:n.438-2489G>A (ARSDP1) | ||
| XR_001756061.1:n.609-1098C>T |