Linked Data
ClinVar Variation Id:
12038
dbSNP Id:
rs121917786
ExAC:
3:10131999 G / A
gnomAD v2:
3-10131999-G-A
gnomAD v3:
3-10090315-G-A
gnomAD v4:
3-10090315-G-A
PubMed:
PMID:11239453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10090315G>A , CM000665.2:g.10090315G>A | GRCh38 |
| NC_000003.11:g.10131999G>A , CM000665.1:g.10131999G>A | GRCh37 |
| NC_000003.10:g.10106999G>A | NCBI36 |
| NG_007311.1:g.68887G>A , LRG_306:g.68887G>A | |
| NG_042053.1:g.22917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.2791G>A (FANCD2) | ||
| ENST00000683263.1:n.2706G>A (FANCD2) | ||
| ENST00000683933.1:n.504G>A (FANCD2) | ||
| ENST00000675286.1:c.3707G>A (FANCD2) MANE Select | ENSP00000502379.1:p.Arg1236His | |
| ENST00000676013.1:c.3596G>A (FANCD2) | ENSP00000501999.1:p.Arg1199His | |
| ENST00000287647.7:c.3707G>A (FANCD2) | ENSP00000287647.3:p.Arg1236His | |
| ENST00000383807.5:c.3707G>A (FANCD2) | ENSP00000373318.1:p.Arg1236His | |
| ENST00000419585.5:c.3707G>A (FANCD2) | ENSP00000398754.1:p.Arg1236His | |
| ENST00000421731.5:c.2182+1365G>A (FANCD2) | ||
| ENST00000431315.5:n.96-3075C>T (FANCD2OS) | ||
| ENST00000436517.5:n.117-3075C>T (FANCD2OS) | ||
| ENST00000524279.1:c.*44-8784C>T (FANCD2OS) | ENSP00000429663.1:n.*44-8784C>T | |
| NM_001018115.1:c.3707G>A , LRG_306t1:c.3707G>A (FANCD2) | NP_001018125.1:p.Arg1236His | |
| NM_033084.3:c.3707G>A , LRG_306t2:c.3707G>A (FANCD2) | NP_149075.2:p.Arg1236His | |
| NM_173472.1:c.*44-8784C>T (FANCD2OS) | NP_775743.1:n.*44-8784C>T | |
| XM_005264946.2:c.3707G>A (FANCD2) | XP_005265003.1:p.Arg1236His | |
| XM_005264947.2:c.1712G>A (FANCD2) | XP_005265004.1:p.Arg571His | |
| XM_006713021.2:c.3707G>A (FANCD2) | XP_006713084.1:p.Arg1236His | |
| XM_006713023.2:c.3707G>A (FANCD2) | XP_006713086.1:p.Arg1236His | |
| XM_006713024.2:c.3590G>A (FANCD2) | XP_006713087.1:p.Arg1197His | |
| XM_011533480.1:c.2558G>A (FANCD2) | XP_011531782.1:p.Arg853His | |
| NM_001018115.2:c.3707G>A (FANCD2) | NP_001018125.1:p.Arg1236His | |
| NM_001319984.1:c.3707G>A (FANCD2) | NP_001306913.1:p.Arg1236His | |
| NM_033084.4:c.3707G>A (FANCD2) | NP_149075.2:p.Arg1236His | |
| NM_001018115.3:c.3707G>A (FANCD2) MANE Select | NP_001018125.1:p.Arg1236His | |
| NM_001319984.2:c.3707G>A (FANCD2) | NP_001306913.1:p.Arg1236His | |
| NM_001374253.1:c.3596G>A (FANCD2) | NP_001361182.1:p.Arg1199His | |
| NM_001374254.1:c.3707G>A (FANCD2) | NP_001361183.1:p.Arg1236His | |
| NM_033084.6:c.3707G>A (FANCD2) | NP_149075.2:p.Arg1236His | |
| NM_173472.2:c.*44-8784C>T (FANCD2OS) | NP_775743.1:n.*44-8784C>T |