Linked Data
ClinVar Variation Id:
435147
dbSNP Id:
rs745765337
ExAC:
3:10130224 C / G
gnomAD v2:
3-10130224-C-G
gnomAD v3:
3-10088540-C-G
gnomAD v4:
3-10088540-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10088540C>G , CM000665.2:g.10088540C>G | GRCh38 |
| NC_000003.11:g.10130224C>G , CM000665.1:g.10130224C>G | GRCh37 |
| NC_000003.10:g.10105224C>G | NCBI36 |
| NG_007311.1:g.67112C>G , LRG_306:g.67112C>G | |
| NG_042053.1:g.24692G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.2642C>G (FANCD2) | ||
| ENST00000683263.1:n.2557C>G (FANCD2) | ||
| ENST00000683933.1:n.355C>G (FANCD2) | ||
| ENST00000675286.1:c.3558C>G (FANCD2) MANE Select | ENSP00000502379.1:p.Leu1186= | |
| ENST00000676013.1:c.3447C>G (FANCD2) | ENSP00000501999.1:p.Leu1149= | |
| ENST00000287647.7:c.3558C>G (FANCD2) | ENSP00000287647.3:p.Leu1186= | |
| ENST00000383807.5:c.3558C>G (FANCD2) | ENSP00000373318.1:p.Leu1186= | |
| ENST00000419585.5:c.3558C>G (FANCD2) | ENSP00000398754.1:p.Leu1186= | |
| ENST00000421731.5:c.2057C>G (FANCD2) | ||
| ENST00000431315.5:n.96-1300G>C (FANCD2OS) | ||
| ENST00000436517.5:n.117-1300G>C (FANCD2OS) | ||
| ENST00000524279.1:c.*44-7009G>C (FANCD2OS) | ENSP00000429663.1:n.*44-7009G>C | |
| NM_001018115.1:c.3558C>G , LRG_306t1:c.3558C>G (FANCD2) | NP_001018125.1:p.Leu1186= | |
| NM_033084.3:c.3558C>G , LRG_306t2:c.3558C>G (FANCD2) | NP_149075.2:p.Leu1186= | |
| NM_173472.1:c.*44-7009G>C (FANCD2OS) | NP_775743.1:n.*44-7009G>C | |
| XM_005264946.2:c.3558C>G (FANCD2) | XP_005265003.1:p.Leu1186= | |
| XM_005264947.2:c.1563C>G (FANCD2) | XP_005265004.1:p.Leu521= | |
| XM_006713021.2:c.3558C>G (FANCD2) | XP_006713084.1:p.Leu1186= | |
| XM_006713023.2:c.3558C>G (FANCD2) | XP_006713086.1:p.Leu1186= | |
| XM_006713024.2:c.3441C>G (FANCD2) | XP_006713087.1:p.Leu1147= | |
| XM_011533479.1:c.3558C>G (FANCD2) | XP_011531781.1:p.Leu1186= | |
| XM_011533480.1:c.2409C>G (FANCD2) | XP_011531782.1:p.Leu803= | |
| NM_001018115.2:c.3558C>G (FANCD2) | NP_001018125.1:p.Leu1186= | |
| NM_001319984.1:c.3558C>G (FANCD2) | NP_001306913.1:p.Leu1186= | |
| NM_033084.4:c.3558C>G (FANCD2) | NP_149075.2:p.Leu1186= | |
| NM_001018115.3:c.3558C>G (FANCD2) MANE Select | NP_001018125.1:p.Leu1186= | |
| NM_001319984.2:c.3558C>G (FANCD2) | NP_001306913.1:p.Leu1186= | |
| NM_001374253.1:c.3447C>G (FANCD2) | NP_001361182.1:p.Leu1149= | |
| NM_001374254.1:c.3558C>G (FANCD2) | NP_001361183.1:p.Leu1186= | |
| NM_033084.6:c.3558C>G (FANCD2) | NP_149075.2:p.Leu1186= | |
| NM_173472.2:c.*44-7009G>C (FANCD2OS) | NP_775743.1:n.*44-7009G>C |