Linked Data
ClinVar Variation Id:
342393
ClinVar RCV Id:
RCV000357953
dbSNP Id:
rs9862958
gnomAD v2:
3-10141172-G-A
gnomAD v3:
3-10099488-G-A
gnomAD v4:
3-10099488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10099488G>A , CM000665.2:g.10099488G>A | GRCh38 |
| NC_000003.11:g.10141172G>A , CM000665.1:g.10141172G>A | GRCh37 |
| NC_000003.10:g.10116172G>A | NCBI36 |
| NG_007311.1:g.78060G>A , LRG_306:g.78060G>A | |
| NG_042053.1:g.13744C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675286.1:c.4281+673G>A (FANCD2) MANE Select | ENSP00000502379.1:n.4281+673G>A | |
| ENST00000676013.1:c.4170+673G>A (FANCD2) | ENSP00000501999.1:n.4170+673G>A | |
| ENST00000287647.7:c.*538G>A (FANCD2) | ENSP00000287647.3:n.*538G>A | |
| ENST00000383807.5:c.4281+673G>A (FANCD2) | ENSP00000373318.1:n.4281+673G>A | |
| ENST00000419585.5:c.4281+673G>A (FANCD2) | ENSP00000398754.1:n.4281+673G>A | |
| ENST00000421731.5:c.2686+673G>A (FANCD2) | ||
| ENST00000431315.5:n.71-4598C>T (FANCD2OS) | ||
| ENST00000470028.1:n.354+673G>A (FANCD2) | ||
| ENST00000524279.1:c.*43+4710C>T (FANCD2OS) | ENSP00000429663.1:n.*43+4710C>T | |
| NM_001018115.1:c.4281+673G>A , LRG_306t1:c.4281+673G>A (FANCD2) | NP_001018125.1:n.4281+673G>A | |
| NM_033084.3:c.*538G>A , LRG_306t2:c.*538G>A (FANCD2) | NP_149075.2:n.*538G>A | |
| NM_173472.1:c.*43+4710C>T (FANCD2OS) | NP_775743.1:n.*43+4710C>T | |
| XM_005264946.2:c.4281+673G>A (FANCD2) | XP_005265003.1:n.4281+673G>A | |
| NM_001018115.2:c.4281+673G>A (FANCD2) | NP_001018125.1:n.4281+673G>A | |
| NM_001319984.1:c.4281+673G>A (FANCD2) | NP_001306913.1:n.4281+673G>A | |
| NM_033084.4:c.*538G>A (FANCD2) | NP_149075.2:n.*538G>A | |
| NM_001018115.3:c.4281+673G>A (FANCD2) MANE Select | NP_001018125.1:n.4281+673G>A | |
| NM_001319984.2:c.4281+673G>A (FANCD2) | NP_001306913.1:n.4281+673G>A | |
| NM_001374253.1:c.4170+673G>A (FANCD2) | NP_001361182.1:n.4170+673G>A | |
| NM_173472.2:c.*43+4710C>T (FANCD2OS) | NP_775743.1:n.*43+4710C>T |