Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57739473G>T , CM000674.2:g.57739473G>T | GRCh38 |
| NC_000012.11:g.58133256G>T , CM000674.1:g.58133256G>T | GRCh37 |
| NC_000012.10:g.56419523G>T | NCBI36 |
| NG_029755.1:g.7689C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014770.3:c.160+2439C>A (AGAP2) | NP_055585.1:n.160+2439C>A |
| NM_014770.4:c.160+2439C>A (AGAP2) | NP_055585.1:n.160+2439C>A |
| ENST00000257897.7:c.160+2439C>A (AGAP2) | ENSP00000257897.3:n.160+2439C>A |
| ENST00000553221.5:n.189+1272G>T (TSPAN31) | |
| XM_005268626.1:c.160+2439C>A (AGAP2) | XP_005268683.1:n.160+2439C>A |
| XM_005268626.2:c.160+2439C>A (AGAP2) | XP_005268683.1:n.160+2439C>A |