Linked Data
ClinVar Variation Id:
2709114
ClinVar RCV Id:
RCV003524217
dbSNP Id:
rs1402751853
gnomAD v3:
3-10098824-A-G
gnomAD v4:
3-10098824-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10098824A>G , CM000665.2:g.10098824A>G | GRCh38 |
| NC_000003.11:g.10140508A>G , CM000665.1:g.10140508A>G | GRCh37 |
| NC_000003.10:g.10115508A>G | NCBI36 |
| NG_007311.1:g.77396A>G , LRG_306:g.77396A>G | |
| NG_042053.1:g.14408T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.3374A>G (FANCD2) | ||
| ENST00000683263.1:n.3289A>G (FANCD2) | ||
| ENST00000683312.1:n.3841A>G (FANCD2) | ||
| ENST00000675286.1:c.4281+9A>G (FANCD2) MANE Select | ENSP00000502379.1:n.4281+9A>G | |
| ENST00000676013.1:c.4170+9A>G (FANCD2) | ENSP00000501999.1:n.4170+9A>G | |
| ENST00000287647.7:c.4290A>G (FANCD2) | ENSP00000287647.3:p.Leu1430= | |
| ENST00000383807.5:c.4281+9A>G (FANCD2) | ENSP00000373318.1:n.4281+9A>G | |
| ENST00000419585.5:c.4281+9A>G (FANCD2) | ENSP00000398754.1:n.4281+9A>G | |
| ENST00000421731.5:c.2686+9A>G (FANCD2) | ||
| ENST00000431315.5:n.71-3934T>C (FANCD2OS) | ||
| ENST00000470028.1:n.354+9A>G (FANCD2) | ||
| ENST00000524279.1:c.*43+5374T>C (FANCD2OS) | ENSP00000429663.1:n.*43+5374T>C | |
| NM_001018115.1:c.4281+9A>G , LRG_306t1:c.4281+9A>G (FANCD2) | NP_001018125.1:n.4281+9A>G | |
| NM_033084.3:c.4290A>G , LRG_306t2:c.4290A>G (FANCD2) | NP_149075.2:p.Leu1430= | |
| NM_173472.1:c.*43+5374T>C (FANCD2OS) | NP_775743.1:n.*43+5374T>C | |
| XM_005264946.2:c.4281+9A>G (FANCD2) | XP_005265003.1:n.4281+9A>G | |
| XM_005264947.2:c.2295A>G (FANCD2) | XP_005265004.1:p.Leu765= | |
| XM_006713021.2:c.4290A>G (FANCD2) | XP_006713084.1:p.Leu1430= | |
| XM_006713023.2:c.4251A>G (FANCD2) | XP_006713086.1:p.Leu1417= | |
| XM_006713024.2:c.4173A>G (FANCD2) | XP_006713087.1:p.Leu1391= | |
| XM_011533480.1:c.3141A>G (FANCD2) | XP_011531782.1:p.Leu1047= | |
| NM_001018115.2:c.4281+9A>G (FANCD2) | NP_001018125.1:n.4281+9A>G | |
| NM_001319984.1:c.4281+9A>G (FANCD2) | NP_001306913.1:n.4281+9A>G | |
| NM_033084.4:c.4290A>G (FANCD2) | NP_149075.2:p.Leu1430= | |
| NM_001018115.3:c.4281+9A>G (FANCD2) MANE Select | NP_001018125.1:n.4281+9A>G | |
| NM_001319984.2:c.4281+9A>G (FANCD2) | NP_001306913.1:n.4281+9A>G | |
| NM_001374253.1:c.4170+9A>G (FANCD2) | NP_001361182.1:n.4170+9A>G | |
| NM_001374254.1:c.4251A>G (FANCD2) | NP_001361183.1:p.Leu1417= | |
| NM_033084.6:c.4290A>G (FANCD2) | NP_149075.2:p.Leu1430= | |
| NM_173472.2:c.*43+5374T>C (FANCD2OS) | NP_775743.1:n.*43+5374T>C |