gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83159304 (AFR)
Genomes Max Group AF
0.83203544 (AFR)
Exomes Max Group AF
0.7216068 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.51167386G>C , CM000679.2:g.51167386G>C | GRCh38 |
| NC_000017.10:g.49244747G>C , CM000679.1:g.49244747G>C | GRCh37 |
| NC_000017.9:g.46599746G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512737.6:c.126+430G>C (NME2) MANE Select | ENSP00000421064.1:n.126+430G>C | |
| ENST00000376392.10:c.471+430G>C (NME1-NME2) | ENSP00000365572.6:n.471+430G>C | |
| ENST00000393183.7:c.126+430G>C (NME2) | ENSP00000376880.4:n.126+430G>C | |
| ENST00000393190.4:c.126+430G>C (NME2) | ENSP00000376886.1:n.126+430G>C | |
| ENST00000393193.6:c.471+430G>C (NME1-NME2) | ENSP00000376889.2:n.471+430G>C | |
| ENST00000503064.5:c.126+430G>C (NME2) | ENSP00000426901.1:n.126+430G>C | |
| ENST00000512737.5:c.126+430G>C (NME2) | ENSP00000421064.1:n.126+430G>C | |
| ENST00000513177.5:c.126+430G>C (NME2) | ENSP00000425581.1:n.126+430G>C | |
| ENST00000514264.6:c.126+430G>C (NME2) | ENSP00000426976.2:n.126+430G>C | |
| ENST00000555572.1:c.546+430G>C (NME1-NME2) | ENSP00000451932.1:n.546+430G>C | |
| NM_001018136.2:c.471+430G>C (NME1-NME2) | NP_001018146.1:n.471+430G>C | |
| NM_001018137.2:c.126+430G>C (NME2) | NP_001018147.1:n.126+430G>C | |
| NM_001018138.1:c.126+430G>C (NME2) | NP_001018148.1:n.126+430G>C | |
| NM_001018139.2:c.126+430G>C (NME2) | NP_001018149.1:n.126+430G>C | |
| NM_001198682.1:c.126+430G>C (NME2) | NP_001185611.1:n.126+430G>C | |
| NM_002512.3:c.126+430G>C (NME2) | NP_002503.1:n.126+430G>C | |
| NR_037149.1:n.822+430G>C (NME1-NME2) | ||
| NM_001018136.3:c.471+430G>C (NME1-NME2) | NP_001018146.1:n.471+430G>C | |
| NM_001018137.3:c.126+430G>C (NME2) | NP_001018147.1:n.126+430G>C | |
| NM_001198682.2:c.126+430G>C (NME2) | NP_001185611.1:n.126+430G>C | |
| NM_002512.4:c.126+430G>C (NME2) MANE Select | NP_002503.1:n.126+430G>C | |
| NR_037149.2:n.799+430G>C (NME1-NME2) |