SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
MyVariant Identifiers:
chr2:g.58387261T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160126T>C , CM000664.2:g.58160126T>C | GRCh38 |
| NC_000002.11:g.58387261T>C , CM000664.1:g.58387261T>C | GRCh37 |
| NC_000002.10:g.58240765T>C | NCBI36 |
| NG_007418.1:g.86254A>G , LRG_501:g.86254A>G | |
| NG_029717.2:g.257386T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1089A>G (FANCL) | ENSP00000385021.3:p.Glu363= | |
| ENST00000403295.8:c.990A>G (FANCL) | ENSP00000386097.3:p.Glu330= | |
| ENST00000403676.6:c.*637A>G (FANCL) | ENSP00000384046.2:n.*637A>G | |
| ENST00000417361.2:c.*652A>G (FANCL) | ENSP00000389448.2:n.*652A>G | |
| ENST00000427708.7:c.1119A>G (FANCL) | ENSP00000400969.3:p.Glu373= | |
| ENST00000446381.6:c.630A>G (FANCL) | ENSP00000390991.2:p.Glu210= | |
| ENST00000449070.6:c.897A>G (FANCL) | ENSP00000401280.2:p.Glu299= | |
| ENST00000470506.2:n.1588A>G (FANCL) | ||
| ENST00000696305.1:c.1017A>G (FANCL) | ENSP00000512543.1:p.Glu339= | |
| ENST00000696306.1:c.*964A>G (FANCL) | ENSP00000512544.1:n.*964A>G | |
| ENST00000696307.1:c.1059A>G (FANCL) | ENSP00000512545.1:p.Glu353= | |
| ENST00000696314.1:c.*127A>G (FANCL) | ENSP00000512552.1:n.*127A>G | |
| ENST00000696315.1:c.*637A>G (FANCL) | ENSP00000512553.1:n.*637A>G | |
| ENST00000696316.1:c.957A>G (FANCL) | ENSP00000512554.1:p.Glu319= | |
| ENST00000696317.1:c.*47A>G (FANCL) | ENSP00000512555.1:n.*47A>G | |
| ENST00000696318.1:c.*127A>G (FANCL) | ENSP00000512556.1:n.*127A>G | |
| ENST00000696319.1:c.1032A>G (FANCL) | ENSP00000512557.1:p.Glu344= | |
| ENST00000696320.1:n.2753A>G (FANCL) | ||
| ENST00000696324.1:c.*524A>G (FANCL) | ENSP00000512561.1:n.*524A>G | |
| ENST00000696325.1:n.4157A>G (FANCL) | ||
| ENST00000696326.1:c.1134A>G (FANCL) | ENSP00000512562.1:p.Glu378= | |
| ENST00000696338.1:n.1188A>G (FANCL) | ||
| ENST00000696339.1:n.2646A>G (FANCL) | ||
| ENST00000696340.1:n.3300A>G (FANCL) | ||
| ENST00000696341.1:n.1582A>G (FANCL) | ||
| ENST00000696342.1:c.*2304A>G (FANCL) | ENSP00000512569.1:n.*2304A>G | |
| ENST00000696343.1:n.2933A>G (FANCL) | ||
| ENST00000696344.1:c.*788A>G (FANCL) | ENSP00000512570.1:n.*788A>G | |
| ENST00000696358.1:n.3747A>G (FANCL) | ||
| ENST00000696359.1:n.3424A>G (FANCL) | ||
| ENST00000696360.1:n.1859A>G (FANCL) | ||
| ENST00000696361.1:c.*1077A>G (FANCL) | ENSP00000512579.1:n.*1077A>G | |
| ENST00000696362.1:c.*524A>G (FANCL) | ENSP00000512580.1:n.*524A>G | |
| ENST00000696363.1:n.2851A>G (FANCL) | ||
| ENST00000696364.1:n.1467A>G (FANCL) | ||
| ENST00000696371.1:c.1065A>G (FANCL) | ENSP00000512586.1:p.Glu355= | |
| ENST00000696372.1:n.2163A>G (FANCL) | ||
| ENST00000696373.1:c.*2304A>G (FANCL) | ENSP00000512587.1:n.*2304A>G | |
| ENST00000696374.1:c.*442A>G (FANCL) | ENSP00000512588.1:n.*442A>G | |
| ENST00000696375.1:n.8007A>G (FANCL) | ||
| ENST00000696376.1:n.6860A>G (FANCL) | ||
| ENST00000696378.1:c.*1092A>G (FANCL) | ENSP00000512589.1:n.*1092A>G | |
| ENST00000696394.1:n.4576A>G (FANCL) | ||
| ENST00000696395.1:n.4515A>G (FANCL) | ||
| ENST00000696396.1:n.2228A>G (FANCL) | ||
| ENST00000696397.1:n.3199A>G (FANCL) | ||
| ENST00000696398.1:c.*221A>G (FANCL) | ENSP00000512604.1:n.*221A>G | |
| ENST00000696399.1:n.2348A>G (FANCL) | ||
| ENST00000696400.1:c.*838A>G (FANCL) | ENSP00000512605.1:n.*838A>G | |
| ENST00000696409.1:c.*591A>G (FANCL) | ENSP00000512610.1:n.*591A>G | |
| ENST00000696410.1:c.*555A>G (FANCL) | ENSP00000512611.1:n.*555A>G | |
| ENST00000696411.1:n.779A>G (FANCL) | ||
| ENST00000696412.1:n.1573A>G (FANCL) | ||
| ENST00000696413.1:n.1076A>G (FANCL) | ||
| ENST00000696414.1:n.2120A>G (FANCL) | ||
| ENST00000696415.1:c.*47A>G (FANCL) | ENSP00000512612.1:n.*47A>G | |
| ENST00000696416.1:n.1082A>G (FANCL) | ||
| ENST00000696432.1:n.3533A>G (FANCL) | ||
| ENST00000696433.1:c.*127A>G (FANCL) | ENSP00000512627.1:n.*127A>G | |
| ENST00000696434.1:c.912A>G (FANCL) | ENSP00000512628.1:p.Glu304= | |
| ENST00000696435.1:c.*221A>G (FANCL) | ENSP00000512629.1:n.*221A>G | |
| ENST00000696436.1:n.1028A>G (FANCL) | ||
| ENST00000696437.1:n.1491A>G (FANCL) | ||
| ENST00000696438.1:c.*907A>G (FANCL) | ENSP00000512630.1:n.*907A>G | |
| ENST00000696439.1:n.3123A>G (FANCL) | ||
| ENST00000696440.1:n.2110A>G (FANCL) | ||
| ENST00000696454.1:c.*425A>G (FANCL) | ENSP00000512641.1:n.*425A>G | |
| ENST00000696455.1:c.*127A>G (FANCL) | ENSP00000512642.1:n.*127A>G | |
| ENST00000696456.1:n.584A>G (FANCL) | ||
| ENST00000696457.1:c.*1845A>G (FANCL) | ENSP00000512643.1:n.*1845A>G | |
| ENST00000696458.1:c.*47A>G (FANCL) | ENSP00000512644.1:n.*47A>G | |
| ENST00000696459.1:c.*509A>G (FANCL) | ENSP00000512645.1:n.*509A>G | |
| ENST00000696460.1:n.1571A>G (FANCL) | ||
| ENST00000696467.1:c.*570A>G (FANCL) | ENSP00000512648.1:n.*570A>G | |
| ENST00000696468.1:c.*566A>G (FANCL) | ENSP00000512649.1:n.*566A>G | |
| ENST00000696469.1:c.*221A>G (FANCL) | ENSP00000512650.1:n.*221A>G | |
| ENST00000696470.1:n.3242A>G (FANCL) | ||
| ENST00000696471.1:n.744A>G (FANCL) | ||
| ENST00000696472.1:c.*127A>G (FANCL) | ENSP00000512651.1:n.*127A>G | |
| ENST00000696473.1:c.*757A>G (FANCL) | ENSP00000512652.1:n.*757A>G | |
| ENST00000696474.1:n.950A>G (FANCL) | ||
| ENST00000696475.1:n.2582A>G (FANCL) | ||
| ENST00000696492.1:c.*739A>G (FANCL) | ENSP00000512662.1:n.*739A>G | |
| ENST00000696493.1:c.*922A>G (FANCL) | ENSP00000512663.1:n.*922A>G | |
| ENST00000696494.1:n.1106A>G (FANCL) | ||
| ENST00000696495.1:c.*820A>G (FANCL) | ENSP00000512664.1:n.*820A>G | |
| ENST00000696496.1:n.1613A>G (FANCL) | ||
| ENST00000696497.1:n.4371A>G (FANCL) | ||
| ENST00000696498.1:n.1833A>G (FANCL) | ||
| ENST00000696499.1:c.*511A>G (FANCL) | ENSP00000512665.1:n.*511A>G | |
| ENST00000696508.1:c.*629A>G (FANCL) | ENSP00000512674.1:n.*629A>G | |
| ENST00000696509.1:c.*951A>G (FANCL) | ENSP00000512675.1:n.*951A>G | |
| ENST00000696510.1:c.546A>G (FANCL) | ENSP00000512676.1:p.Glu182= | |
| ENST00000696527.1:c.*127A>G (FANCL) | ENSP00000512690.1:n.*127A>G | |
| ENST00000696528.1:c.*127A>G (FANCL) | ENSP00000512691.1:n.*127A>G | |
| ENST00000696529.1:n.937A>G (FANCL) | ||
| ENST00000696530.1:c.870A>G (FANCL) | ENSP00000512692.1:p.Glu290= | |
| ENST00000696531.1:c.*606A>G (FANCL) | ENSP00000512693.1:n.*606A>G | |
| ENST00000696532.1:n.2221A>G (FANCL) | ||
| ENST00000696542.1:n.1012A>G (FANCL) | ||
| ENST00000696543.1:c.*127A>G (FANCL) | ENSP00000512703.1:n.*127A>G | |
| ENST00000696544.1:c.*127A>G (FANCL) | ENSP00000512704.1:n.*127A>G | |
| ENST00000696545.1:c.*742A>G (FANCL) | ENSP00000512705.1:n.*742A>G | |
| ENST00000696546.1:c.*853A>G (FANCL) | ENSP00000512706.1:n.*853A>G | |
| ENST00000696547.1:c.1062A>G (FANCL) | ENSP00000512707.1:p.Glu354= | |
| ENST00000696548.1:c.*1278A>G (FANCL) | ENSP00000512708.1:n.*1278A>G | |
| ENST00000696564.1:c.*127A>G (FANCL) | ENSP00000512722.1:n.*127A>G | |
| ENST00000696565.1:c.*127A>G (FANCL) | ENSP00000512723.1:n.*127A>G | |
| ENST00000696566.1:n.3662A>G (FANCL) | ||
| ENST00000696567.1:c.969A>G (FANCL) | ENSP00000512724.1:p.Glu323= | |
| ENST00000696568.1:n.500A>G (FANCL) | ||
| ENST00000696569.1:n.1183A>G (FANCL) | ||
| ENST00000696570.1:c.*396A>G (FANCL) | ENSP00000512725.1:n.*396A>G | |
| ENST00000696619.1:n.2630A>G (FANCL) | ||
| ENST00000696620.1:c.666A>G (FANCL) | ENSP00000512759.1:p.Glu222= | |
| ENST00000696621.1:c.*221A>G (FANCL) | ENSP00000512760.1:n.*221A>G | |
| ENST00000696622.1:n.2805A>G (FANCL) | ||
| ENST00000696623.1:n.1040A>G (FANCL) | ||
| ENST00000696624.1:c.1005A>G (FANCL) | ENSP00000512761.1:p.Glu335= | |
| ENST00000696625.1:c.*524A>G (FANCL) | ENSP00000512762.1:n.*524A>G | |
| ENST00000696634.1:c.787A>G (FANCL) | ENSP00000512770.1:n.787A>G | |
| ENST00000696635.1:c.1050A>G (FANCL) | ENSP00000512771.1:p.Glu350= | |
| ENST00000696636.1:n.3526A>G (FANCL) | ||
| ENST00000696637.1:n.8147A>G (FANCL) | ||
| ENST00000696638.1:n.1089A>G (FANCL) | ||
| ENST00000696639.1:n.3152A>G (FANCL) | ||
| ENST00000233741.9:c.1074A>G (FANCL) MANE Select | ENSP00000233741.5:p.Glu358= | |
| ENST00000233741.8:c.1074A>G (FANCL) | ENSP00000233741.4:p.Glu358= | |
| ENST00000402135.7:c.1089A>G (FANCL) | ENSP00000385021.3:p.Glu363= | |
| ENST00000403295.7:c.990A>G (FANCL) | ENSP00000386097.3:p.Glu330= | |
| ENST00000403676.5:c.723A>G (FANCL) | ENSP00000384046.1:p.Glu241= | |
| ENST00000449070.5:c.897A>G (FANCL) | ENSP00000401280.1:p.Glu299= | |
| NM_001114636.1:c.1089A>G , LRG_501t1:c.1089A>G (FANCL) | NP_001108108.1:p.Glu363= | |
| NM_018062.3:c.1074A>G , LRG_501t2:c.1074A>G (FANCL) | NP_060532.2:p.Glu358= | |
| XM_005264395.2:c.1074A>G (FANCL) | XP_005264452.1:p.Glu358= | |
| XM_005264397.3:c.723A>G (FANCL) | XP_005264454.1:p.Glu241= | |
| XM_011532939.1:c.1134A>G (FANCL) | XP_011531241.1:p.Glu378= | |
| XM_011532940.1:c.1119A>G (FANCL) | XP_011531242.1:p.Glu373= | |
| XM_011532941.1:c.1134A>G (FANCL) | XP_011531243.1:p.Glu378= | |
| XM_011532942.1:c.1089A>G (FANCL) | XP_011531244.1:p.Glu363= | |
| XM_011532943.1:c.1335A>G (FANCL) | XP_011531245.1:p.Glu445= | |
| XM_011532944.1:c.783A>G (FANCL) | XP_011531246.1:p.Glu261= | |
| XM_011532945.1:c.738A>G (FANCL) | XP_011531247.1:p.Glu246= | |
| XR_939692.1:n.1073A>G (FANCL) | ||
| NR_156742.1:n.863A>G (FANCL) | ||
| XM_005264395.4:c.1074A>G (FANCL) | XP_005264452.1:p.Glu358= | |
| XM_005264540.4:c.*433T>C (VRK2) | XP_005264597.1:n.*433T>C | |
| XM_006712090.4:c.*810T>C (VRK2) | XP_006712153.1:n.*810T>C | |
| XM_006712092.4:c.*433T>C (VRK2) | XP_006712155.1:n.*433T>C | |
| XM_006712093.4:c.*433T>C (VRK2) | XP_006712156.1:n.*433T>C | |
| XM_011532939.3:c.1134A>G (FANCL) | XP_011531241.1:p.Glu378= | |
| XM_011532940.3:c.1119A>G (FANCL) | XP_011531242.1:p.Glu373= | |
| XM_011532941.2:c.1134A>G (FANCL) | XP_011531243.1:p.Glu378= | |
| XM_011532942.3:c.1089A>G (FANCL) | XP_011531244.1:p.Glu363= | |
| XM_011532944.2:c.783A>G (FANCL) | XP_011531246.1:p.Glu261= | |
| XM_011532945.2:c.738A>G (FANCL) | XP_011531247.1:p.Glu246= | |
| XM_011533092.3:c.*433T>C (VRK2) | XP_011531394.1:n.*433T>C | |
| XM_017004414.2:c.1119A>G (FANCL) | XP_016859903.1:p.Glu373= | |
| XM_017004416.1:c.723A>G (FANCL) | XP_016859905.1:p.Glu241= | |
| XM_017004858.2:c.*810T>C (VRK2) | XP_016860347.1:n.*810T>C | |
| XM_017004859.2:c.*433T>C (VRK2) | XP_016860348.1:n.*433T>C | |
| XM_017004860.2:c.*433T>C (VRK2) | XP_016860349.1:n.*433T>C | |
| XM_017004861.2:c.*433T>C (VRK2) | XP_016860350.1:n.*433T>C | |
| XM_017004862.2:c.*433T>C (VRK2) | XP_016860351.1:n.*433T>C | |
| XM_017004863.2:c.*433T>C (VRK2) | XP_016860352.1:n.*433T>C | |
| XM_017004864.2:c.*810T>C (VRK2) | XP_016860353.1:n.*810T>C | |
| XM_017004865.1:c.*818T>C (VRK2) | XP_016860354.1:n.*818T>C | |
| XM_017004866.1:c.*818T>C (VRK2) | XP_016860355.1:n.*818T>C | |
| XR_001738802.2:n.1020A>G (FANCL) | ||
| XR_001738803.2:n.1005A>G (FANCL) | ||
| XR_002959309.1:n.1716A>G (FANCL) | ||
| XR_939692.2:n.1065A>G (FANCL) | ||
| NM_001374615.1:c.1119A>G (FANCL) | NP_001361544.1:p.Glu373= | |
| NM_018062.4:c.1074A>G (FANCL) MANE Select | NP_060532.2:p.Glu358= | |
| NR_164659.1:n.955A>G (FANCL) |