Linked Data
ClinVar Variation Id:
456358
dbSNP Id:
rs555539811
ExAC:
3:10136893 C / A
gnomAD v2:
3-10136893-C-A
gnomAD v3:
3-10095209-C-A
gnomAD v4:
3-10095209-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10095209C>A , CM000665.2:g.10095209C>A | GRCh38 |
| NC_000003.11:g.10136893C>A , CM000665.1:g.10136893C>A | GRCh37 |
| NC_000003.10:g.10111893C>A | NCBI36 |
| NG_007311.1:g.73781C>A , LRG_306:g.73781C>A | |
| NG_042053.1:g.18023G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.3057C>A (FANCD2) | ||
| ENST00000683263.1:n.2972C>A (FANCD2) | ||
| ENST00000683312.1:n.2473C>A (FANCD2) | ||
| ENST00000683933.1:n.731C>A (FANCD2) | ||
| ENST00000675286.1:c.3973C>A (FANCD2) MANE Select | ENSP00000502379.1:p.Leu1325Met | |
| ENST00000676013.1:c.3862C>A (FANCD2) | ENSP00000501999.1:p.Leu1288Met | |
| ENST00000287647.7:c.3973C>A (FANCD2) | ENSP00000287647.3:p.Leu1325Met | |
| ENST00000383807.5:c.3973C>A (FANCD2) | ENSP00000373318.1:p.Leu1325Met | |
| ENST00000419585.5:c.3973C>A (FANCD2) | ENSP00000398754.1:p.Leu1325Met | |
| ENST00000421731.5:c.2378C>A (FANCD2) | ||
| ENST00000431315.5:n.71-319G>T (FANCD2OS) | ||
| ENST00000436517.5:n.91+48G>T (FANCD2OS) | ||
| ENST00000470028.1:n.46C>A (FANCD2) | ||
| ENST00000524279.1:c.*43+8989G>T (FANCD2OS) | ENSP00000429663.1:n.*43+8989G>T | |
| NM_001018115.1:c.3973C>A , LRG_306t1:c.3973C>A (FANCD2) | NP_001018125.1:p.Leu1325Met | |
| NM_033084.3:c.3973C>A , LRG_306t2:c.3973C>A (FANCD2) | NP_149075.2:p.Leu1325Met | |
| NM_173472.1:c.*43+8989G>T (FANCD2OS) | NP_775743.1:n.*43+8989G>T | |
| XM_005264946.2:c.3973C>A (FANCD2) | XP_005265003.1:p.Leu1325Met | |
| XM_005264947.2:c.1978C>A (FANCD2) | XP_005265004.1:p.Leu660Met | |
| XM_006713021.2:c.3973C>A (FANCD2) | XP_006713084.1:p.Leu1325Met | |
| XM_006713023.2:c.3934C>A (FANCD2) | XP_006713086.1:p.Leu1312Met | |
| XM_006713024.2:c.3856C>A (FANCD2) | XP_006713087.1:p.Leu1286Met | |
| XM_011533480.1:c.2824C>A (FANCD2) | XP_011531782.1:p.Leu942Met | |
| NM_001018115.2:c.3973C>A (FANCD2) | NP_001018125.1:p.Leu1325Met | |
| NM_001319984.1:c.3973C>A (FANCD2) | NP_001306913.1:p.Leu1325Met | |
| NM_033084.4:c.3973C>A (FANCD2) | NP_149075.2:p.Leu1325Met | |
| NM_001018115.3:c.3973C>A (FANCD2) MANE Select | NP_001018125.1:p.Leu1325Met | |
| NM_001319984.2:c.3973C>A (FANCD2) | NP_001306913.1:p.Leu1325Met | |
| NM_001374253.1:c.3862C>A (FANCD2) | NP_001361182.1:p.Leu1288Met | |
| NM_001374254.1:c.3934C>A (FANCD2) | NP_001361183.1:p.Leu1312Met | |
| NM_033084.6:c.3973C>A (FANCD2) | NP_149075.2:p.Leu1325Met | |
| NM_173472.2:c.*43+8989G>T (FANCD2OS) | NP_775743.1:n.*43+8989G>T |