Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379803G>T , CM000686.2:g.12379803G>T | GRCh38 |
| NC_000024.9:g.14491606G>T , CM000686.1:g.14491606G>T | GRCh37 |
| NC_000024.8:g.13001614G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-1054C>A (GYG2P1) | ||
| ENST00000689264.1:n.402-1054C>A (GYG2P1) | ||
| ENST00000443820.2:n.989+1981G>T (ARSDP1) | ||
| ENST00000651802.1:n.450+26581C>A (GYG2P1) | ||
| ENST00000651835.1:n.319+26993C>A (GYG2P1) | ||
| ENST00000382966.5:n.284-25032C>A (GYG2P1) | ||
| ENST00000443820.1:n.438-2533G>T (ARSDP1) | ||
| XR_001756061.1:n.609-1054C>A |