Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379727A>G , CM000686.2:g.12379727A>G | GRCh38 |
| NC_000024.9:g.14491530A>G , CM000686.1:g.14491530A>G | GRCh37 |
| NC_000024.8:g.13001538A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-978T>C (GYG2P1) | ||
| ENST00000689264.1:n.402-978T>C (GYG2P1) | ||
| ENST00000443820.2:n.989+1905A>G (ARSDP1) | ||
| ENST00000651802.1:n.450+26657T>C (GYG2P1) | ||
| ENST00000651835.1:n.319+27069T>C (GYG2P1) | ||
| ENST00000382966.5:n.284-24956T>C (GYG2P1) | ||
| ENST00000443820.1:n.438-2609A>G (ARSDP1) | ||
| XR_001756061.1:n.609-978T>C |