Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625841A>G , CM000673.2:g.22625841A>G | GRCh38 |
| NC_000011.9:g.22647387A>G , CM000673.1:g.22647387A>G | GRCh37 |
| NC_000011.8:g.22603963A>G | NCBI36 |
| NG_007425.1:g.5001T>C , LRG_527:g.5001T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648096.1:n.333A>G (GAS2) | ||
| ENST00000327470.4:c.-31T>C (FANCF) | ENSP00000330875.3:n.-31T>C | |
| ENST00000528582.5:c.-21+28A>G (GAS2) | ENSP00000432584.1:n.-21+28A>G | |
| NM_022725.3:c.-31T>C , LRG_527t1:c.-31T>C (FANCF) | NP_073562.1:n.-31T>C |