Revel Score:
ENST00000532119
0.915
ENST00000528014
0.915
ENST00000292079 (MANE Select)
0.915
ENST00000547335
0.915
ENST00000260287
0.915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117822424C>T , CM000673.2:g.117822424C>T | GRCh38 |
| NC_000011.9:g.117693139C>T , CM000673.1:g.117693139C>T | GRCh37 |
| NC_000011.8:g.117198349C>T | NCBI36 |
| NG_011543.1:g.10669G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292079.7:c.121G>A (FXYD2) MANE Select | ENSP00000292079.2:p.Gly41Arg | |
| ENST00000260287.2:c.115G>A (FXYD2) | ENSP00000260287.2:p.Gly39Arg | |
| ENST00000292079.6:c.121G>A (FXYD2) | ENSP00000292079.2:p.Gly41Arg | |
| ENST00000317594.6:n.385G>A (FXYD2) | ||
| ENST00000528014.5:c.115G>A (FXYD2) | ENSP00000432430.1:p.Gly39Arg | |
| ENST00000532119.5:c.115G>A (FXYD2) | ENSP00000436414.1:p.Gly39Arg | |
| ENST00000532984.1:c.311+255G>A (FXYD6-FXYD2) | ENSP00000463024.1:n.311+255G>A | |
| ENST00000533281.1:n.183G>A (FXYD2) | ||
| ENST00000534383.5:n.679G>A (FXYD2) | ||
| ENST00000614497.5:c.355G>A (FXYD6-FXYD2) | ENSP00000482442.1:p.Gly119Arg | |
| NM_001204268.1:c.355G>A (FXYD6-FXYD2) | NP_001191197.1:p.Gly119Arg | |
| NM_001243598.2:c.311+255G>A (FXYD6-FXYD2) | NP_001230527.1:n.311+255G>A | |
| NM_001680.4:c.121G>A (FXYD2) | NP_001671.2:p.Gly41Arg | |
| NM_021603.3:c.115G>A (FXYD2) | NP_067614.1:p.Gly39Arg | |
| NM_001680.5:c.121G>A (FXYD2) MANE Select | NP_001671.2:p.Gly41Arg | |
| NM_001204268.2:c.355G>A (FXYD6-FXYD2) | NP_001191197.1:p.Gly119Arg | |
| NM_001243598.3:c.311+255G>A (FXYD6-FXYD2) | NP_001230527.1:n.311+255G>A | |
| NM_021603.4:c.115G>A (FXYD2) | NP_067614.1:p.Gly39Arg | |
| NM_001204268.3:c.355G>A (FXYD6-FXYD2) | NP_001191197.1:p.Gly119Arg | |
| NM_001243598.4:c.311+255G>A (FXYD6-FXYD2) | NP_001230527.1:n.311+255G>A |