Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12385314C>T , CM000686.2:g.12385314C>T | GRCh38 |
| NC_000024.9:g.14497109C>T , CM000686.1:g.14497109C>T | GRCh37 |
| NC_000024.8:g.13007117C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382965.3:n.317-6565G>A (GYG2P1) | ||
| ENST00000689264.1:n.402-6565G>A (GYG2P1) | ||
| ENST00000443820.2:n.1408+884C>T (ARSDP1) | ||
| ENST00000651802.1:n.450+21070G>A (GYG2P1) | ||
| ENST00000651835.1:n.319+21482G>A (GYG2P1) | ||
| ENST00000382966.5:n.283+21482G>A (GYG2P1) | ||
| ENST00000443820.1:n.856+884C>T (ARSDP1) | ||
| ENST00000493160.5:n.803-1984G>A (GYG2P1) | ||
| XR_001756061.1:n.609-6565G>A |