Revel Score:
ENST00000507386
0.078
ENST00000265272
0.078
ENST00000333010
0.078
ENST00000539401
0.078
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003341 (NFE)
Exomes Max Group AF
0.00003459 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147639666G>A , CM000667.2:g.147639666G>A | GRCh38 |
| NC_000005.9:g.147019229G>A , CM000667.1:g.147019229G>A | GRCh37 |
| NC_000005.8:g.146999422G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616793.5:c.1496C>T (JAKMIP2) MANE Select | ENSP00000479248.1:p.Thr499Met | |
| ENST00000265272.9:c.1496C>T (JAKMIP2) | ENSP00000265272.5:p.Thr499Met | |
| ENST00000333010.6:c.1370C>T (JAKMIP2) | ENSP00000328989.6:p.Thr457Met | |
| ENST00000504845.1:n.294C>T (JAKMIP2) | ||
| ENST00000507386.5:c.1496C>T (JAKMIP2) | ENSP00000421398.1:p.Thr499Met | |
| ENST00000616793.4:c.1496C>T (JAKMIP2) | ENSP00000479248.1:p.Thr499Met | |
| NM_001270934.1:c.1496C>T (JAKMIP2) | NP_001257863.1:p.Thr499Met | |
| NM_001270941.1:c.1496C>T (JAKMIP2) | NP_001257870.1:p.Thr499Met | |
| NM_001282282.1:c.1370C>T (JAKMIP2) | NP_001269211.1:p.Thr457Met | |
| NM_014790.4:c.1496C>T (JAKMIP2) | NP_055605.2:p.Thr499Met | |
| NR_038902.1:n.364-20787G>A (JAKMIP2-AS1) | ||
| XM_017010098.2:c.1376C>T (JAKMIP2) | XP_016865587.1:p.Thr459Met | |
| NM_001270941.2:c.1496C>T (JAKMIP2) MANE Select | NP_001257870.1:p.Thr499Met | |
| NM_001270934.2:c.1496C>T (JAKMIP2) | NP_001257863.1:p.Thr499Met | |
| NM_001282282.2:c.1370C>T (JAKMIP2) | NP_001269211.1:p.Thr457Met | |
| NM_014790.5:c.1496C>T (JAKMIP2) | NP_055605.2:p.Thr499Met |