gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48921016 (AFR)
Genomes Max Group AF
0.48921016 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10093893A>G , CM000665.2:g.10093893A>G | GRCh38 |
| NC_000003.11:g.10135577A>G , CM000665.1:g.10135577A>G | GRCh37 |
| NC_000003.10:g.10110577A>G | NCBI36 |
| NG_007311.1:g.72465A>G , LRG_306:g.72465A>G | |
| NG_042053.1:g.19339T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.2973-396A>G (FANCD2) | ||
| ENST00000683263.1:n.2888-396A>G (FANCD2) | ||
| ENST00000683312.1:n.1157A>G (FANCD2) | ||
| ENST00000683933.1:n.647-396A>G (FANCD2) | ||
| ENST00000675286.1:c.3889-396A>G (FANCD2) MANE Select | ENSP00000502379.1:n.3889-396A>G | |
| ENST00000676013.1:c.3778-396A>G (FANCD2) | ENSP00000501999.1:n.3778-396A>G | |
| ENST00000287647.7:c.3889-396A>G (FANCD2) | ENSP00000287647.3:n.3889-396A>G | |
| ENST00000383807.5:c.3889-396A>G (FANCD2) | ENSP00000373318.1:n.3889-396A>G | |
| ENST00000419585.5:c.3889-396A>G (FANCD2) | ENSP00000398754.1:n.3889-396A>G | |
| ENST00000421731.5:c.2294-396A>G (FANCD2) | ||
| ENST00000431315.5:n.95+973T>C (FANCD2OS) | ||
| ENST00000436517.5:n.116+973T>C (FANCD2OS) | ||
| ENST00000470028.1:n.36+570A>G (FANCD2) | ||
| ENST00000524279.1:c.*43+10305T>C (FANCD2OS) | ENSP00000429663.1:n.*43+10305T>C | |
| NM_001018115.1:c.3889-396A>G , LRG_306t1:c.3889-396A>G (FANCD2) | NP_001018125.1:n.3889-396A>G | |
| NM_033084.3:c.3889-396A>G , LRG_306t2:c.3889-396A>G (FANCD2) | NP_149075.2:n.3889-396A>G | |
| NM_173472.1:c.*43+10305T>C (FANCD2OS) | NP_775743.1:n.*43+10305T>C | |
| XM_005264946.2:c.3889-396A>G (FANCD2) | XP_005265003.1:n.3889-396A>G | |
| XM_005264947.2:c.1894-396A>G (FANCD2) | XP_005265004.1:n.1894-396A>G | |
| XM_006713021.2:c.3889-396A>G (FANCD2) | XP_006713084.1:n.3889-396A>G | |
| XM_006713023.2:c.3850-396A>G (FANCD2) | XP_006713086.1:n.3850-396A>G | |
| XM_006713024.2:c.3772-396A>G (FANCD2) | XP_006713087.1:n.3772-396A>G | |
| XM_011533480.1:c.2740-396A>G (FANCD2) | XP_011531782.1:n.2740-396A>G | |
| NM_001018115.2:c.3889-396A>G (FANCD2) | NP_001018125.1:n.3889-396A>G | |
| NM_001319984.1:c.3889-396A>G (FANCD2) | NP_001306913.1:n.3889-396A>G | |
| NM_033084.4:c.3889-396A>G (FANCD2) | NP_149075.2:n.3889-396A>G | |
| NM_001018115.3:c.3889-396A>G (FANCD2) MANE Select | NP_001018125.1:n.3889-396A>G | |
| NM_001319984.2:c.3889-396A>G (FANCD2) | NP_001306913.1:n.3889-396A>G | |
| NM_001374253.1:c.3778-396A>G (FANCD2) | NP_001361182.1:n.3778-396A>G | |
| NM_001374254.1:c.3850-396A>G (FANCD2) | NP_001361183.1:n.3850-396A>G | |
| NM_033084.6:c.3889-396A>G (FANCD2) | NP_149075.2:n.3889-396A>G | |
| NM_173472.2:c.*43+10305T>C (FANCD2OS) | NP_775743.1:n.*43+10305T>C |