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
gnomAD v4:
2-58160170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160170C>T , CM000664.2:g.58160170C>T | GRCh38 |
| NC_000002.11:g.58387305C>T , CM000664.1:g.58387305C>T | GRCh37 |
| NC_000002.10:g.58240809C>T | NCBI36 |
| NG_007418.1:g.86210G>A , LRG_501:g.86210G>A | |
| NG_029717.2:g.257430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1045G>A (FANCL) | ENSP00000385021.3:p.Gly349Arg | |
| ENST00000403295.8:c.946G>A (FANCL) | ENSP00000386097.3:p.Gly316Arg | |
| ENST00000403676.6:c.*593G>A (FANCL) | ENSP00000384046.2:n.*593G>A | |
| ENST00000417361.2:c.*608G>A (FANCL) | ENSP00000389448.2:n.*608G>A | |
| ENST00000427708.7:c.1075G>A (FANCL) | ENSP00000400969.3:p.Gly359Arg | |
| ENST00000446381.6:c.586G>A (FANCL) | ENSP00000390991.2:p.Gly196Arg | |
| ENST00000449070.6:c.853G>A (FANCL) | ENSP00000401280.2:p.Gly285Arg | |
| ENST00000470506.2:n.1544G>A (FANCL) | ||
| ENST00000696305.1:c.973G>A (FANCL) | ENSP00000512543.1:p.Gly325Arg | |
| ENST00000696306.1:c.*920G>A (FANCL) | ENSP00000512544.1:n.*920G>A | |
| ENST00000696307.1:c.1015G>A (FANCL) | ENSP00000512545.1:p.Gly339Arg | |
| ENST00000696314.1:c.*83G>A (FANCL) | ENSP00000512552.1:n.*83G>A | |
| ENST00000696315.1:c.*593G>A (FANCL) | ENSP00000512553.1:n.*593G>A | |
| ENST00000696316.1:c.913G>A (FANCL) | ENSP00000512554.1:p.Gly305Arg | |
| ENST00000696317.1:c.*3G>A (FANCL) | ENSP00000512555.1:n.*3G>A | |
| ENST00000696318.1:c.*83G>A (FANCL) | ENSP00000512556.1:n.*83G>A | |
| ENST00000696319.1:c.988G>A (FANCL) | ENSP00000512557.1:p.Gly330Arg | |
| ENST00000696320.1:n.2709G>A (FANCL) | ||
| ENST00000696324.1:c.*480G>A (FANCL) | ENSP00000512561.1:n.*480G>A | |
| ENST00000696325.1:n.4113G>A (FANCL) | ||
| ENST00000696326.1:c.1090G>A (FANCL) | ENSP00000512562.1:p.Gly364Arg | |
| ENST00000696338.1:n.1144G>A (FANCL) | ||
| ENST00000696339.1:n.2602G>A (FANCL) | ||
| ENST00000696340.1:n.3256G>A (FANCL) | ||
| ENST00000696341.1:n.1538G>A (FANCL) | ||
| ENST00000696342.1:c.*2260G>A (FANCL) | ENSP00000512569.1:n.*2260G>A | |
| ENST00000696343.1:n.2889G>A (FANCL) | ||
| ENST00000696344.1:c.*744G>A (FANCL) | ENSP00000512570.1:n.*744G>A | |
| ENST00000696358.1:n.3703G>A (FANCL) | ||
| ENST00000696359.1:n.3380G>A (FANCL) | ||
| ENST00000696360.1:n.1815G>A (FANCL) | ||
| ENST00000696361.1:c.*1033G>A (FANCL) | ENSP00000512579.1:n.*1033G>A | |
| ENST00000696362.1:c.*480G>A (FANCL) | ENSP00000512580.1:n.*480G>A | |
| ENST00000696363.1:n.2807G>A (FANCL) | ||
| ENST00000696364.1:n.1423G>A (FANCL) | ||
| ENST00000696371.1:c.1021G>A (FANCL) | ENSP00000512586.1:p.Gly341Arg | |
| ENST00000696372.1:n.2119G>A (FANCL) | ||
| ENST00000696373.1:c.*2260G>A (FANCL) | ENSP00000512587.1:n.*2260G>A | |
| ENST00000696374.1:c.*398G>A (FANCL) | ENSP00000512588.1:n.*398G>A | |
| ENST00000696375.1:n.7963G>A (FANCL) | ||
| ENST00000696376.1:n.6816G>A (FANCL) | ||
| ENST00000696378.1:c.*1048G>A (FANCL) | ENSP00000512589.1:n.*1048G>A | |
| ENST00000696394.1:n.4532G>A (FANCL) | ||
| ENST00000696395.1:n.4471G>A (FANCL) | ||
| ENST00000696396.1:n.2184G>A (FANCL) | ||
| ENST00000696397.1:n.3155G>A (FANCL) | ||
| ENST00000696398.1:c.*177G>A (FANCL) | ENSP00000512604.1:n.*177G>A | |
| ENST00000696399.1:n.2304G>A (FANCL) | ||
| ENST00000696400.1:c.*794G>A (FANCL) | ENSP00000512605.1:n.*794G>A | |
| ENST00000696409.1:c.*547G>A (FANCL) | ENSP00000512610.1:n.*547G>A | |
| ENST00000696410.1:c.*511G>A (FANCL) | ENSP00000512611.1:n.*511G>A | |
| ENST00000696411.1:n.735G>A (FANCL) | ||
| ENST00000696412.1:n.1529G>A (FANCL) | ||
| ENST00000696413.1:n.1032G>A (FANCL) | ||
| ENST00000696414.1:n.2076G>A (FANCL) | ||
| ENST00000696415.1:c.*3G>A (FANCL) | ENSP00000512612.1:n.*3G>A | |
| ENST00000696416.1:n.1038G>A (FANCL) | ||
| ENST00000696432.1:n.3489G>A (FANCL) | ||
| ENST00000696433.1:c.*83G>A (FANCL) | ENSP00000512627.1:n.*83G>A | |
| ENST00000696434.1:c.868G>A (FANCL) | ENSP00000512628.1:p.Gly290Arg | |
| ENST00000696435.1:c.*177G>A (FANCL) | ENSP00000512629.1:n.*177G>A | |
| ENST00000696436.1:n.984G>A (FANCL) | ||
| ENST00000696437.1:n.1447G>A (FANCL) | ||
| ENST00000696438.1:c.*863G>A (FANCL) | ENSP00000512630.1:n.*863G>A | |
| ENST00000696439.1:n.3079G>A (FANCL) | ||
| ENST00000696440.1:n.2066G>A (FANCL) | ||
| ENST00000696454.1:c.*381G>A (FANCL) | ENSP00000512641.1:n.*381G>A | |
| ENST00000696455.1:c.*83G>A (FANCL) | ENSP00000512642.1:n.*83G>A | |
| ENST00000696456.1:n.540G>A (FANCL) | ||
| ENST00000696457.1:c.*1801G>A (FANCL) | ENSP00000512643.1:n.*1801G>A | |
| ENST00000696458.1:c.*3G>A (FANCL) | ENSP00000512644.1:n.*3G>A | |
| ENST00000696459.1:c.*465G>A (FANCL) | ENSP00000512645.1:n.*465G>A | |
| ENST00000696460.1:n.1527G>A (FANCL) | ||
| ENST00000696467.1:c.*526G>A (FANCL) | ENSP00000512648.1:n.*526G>A | |
| ENST00000696468.1:c.*522G>A (FANCL) | ENSP00000512649.1:n.*522G>A | |
| ENST00000696469.1:c.*177G>A (FANCL) | ENSP00000512650.1:n.*177G>A | |
| ENST00000696470.1:n.3198G>A (FANCL) | ||
| ENST00000696471.1:n.700G>A (FANCL) | ||
| ENST00000696472.1:c.*83G>A (FANCL) | ENSP00000512651.1:n.*83G>A | |
| ENST00000696473.1:c.*713G>A (FANCL) | ENSP00000512652.1:n.*713G>A | |
| ENST00000696474.1:n.906G>A (FANCL) | ||
| ENST00000696475.1:n.2538G>A (FANCL) | ||
| ENST00000696492.1:c.*695G>A (FANCL) | ENSP00000512662.1:n.*695G>A | |
| ENST00000696493.1:c.*878G>A (FANCL) | ENSP00000512663.1:n.*878G>A | |
| ENST00000696494.1:n.1062G>A (FANCL) | ||
| ENST00000696495.1:c.*776G>A (FANCL) | ENSP00000512664.1:n.*776G>A | |
| ENST00000696496.1:n.1569G>A (FANCL) | ||
| ENST00000696497.1:n.4327G>A (FANCL) | ||
| ENST00000696498.1:n.1789G>A (FANCL) | ||
| ENST00000696499.1:c.*467G>A (FANCL) | ENSP00000512665.1:n.*467G>A | |
| ENST00000696508.1:c.*585G>A (FANCL) | ENSP00000512674.1:n.*585G>A | |
| ENST00000696509.1:c.*907G>A (FANCL) | ENSP00000512675.1:n.*907G>A | |
| ENST00000696510.1:c.502G>A (FANCL) | ENSP00000512676.1:p.Gly168Arg | |
| ENST00000696527.1:c.*83G>A (FANCL) | ENSP00000512690.1:n.*83G>A | |
| ENST00000696528.1:c.*83G>A (FANCL) | ENSP00000512691.1:n.*83G>A | |
| ENST00000696529.1:n.893G>A (FANCL) | ||
| ENST00000696530.1:c.826G>A (FANCL) | ENSP00000512692.1:p.Gly276Arg | |
| ENST00000696531.1:c.*562G>A (FANCL) | ENSP00000512693.1:n.*562G>A | |
| ENST00000696532.1:n.2177G>A (FANCL) | ||
| ENST00000696542.1:n.968G>A (FANCL) | ||
| ENST00000696543.1:c.*83G>A (FANCL) | ENSP00000512703.1:n.*83G>A | |
| ENST00000696544.1:c.*83G>A (FANCL) | ENSP00000512704.1:n.*83G>A | |
| ENST00000696545.1:c.*698G>A (FANCL) | ENSP00000512705.1:n.*698G>A | |
| ENST00000696546.1:c.*809G>A (FANCL) | ENSP00000512706.1:n.*809G>A | |
| ENST00000696547.1:c.1018G>A (FANCL) | ENSP00000512707.1:p.Gly340Arg | |
| ENST00000696548.1:c.*1234G>A (FANCL) | ENSP00000512708.1:n.*1234G>A | |
| ENST00000696564.1:c.*83G>A (FANCL) | ENSP00000512722.1:n.*83G>A | |
| ENST00000696565.1:c.*83G>A (FANCL) | ENSP00000512723.1:n.*83G>A | |
| ENST00000696566.1:n.3618G>A (FANCL) | ||
| ENST00000696567.1:c.925G>A (FANCL) | ENSP00000512724.1:p.Gly309Arg | |
| ENST00000696568.1:n.456G>A (FANCL) | ||
| ENST00000696569.1:n.1139G>A (FANCL) | ||
| ENST00000696570.1:c.*352G>A (FANCL) | ENSP00000512725.1:n.*352G>A | |
| ENST00000696619.1:n.2586G>A (FANCL) | ||
| ENST00000696620.1:c.622G>A (FANCL) | ENSP00000512759.1:p.Gly208Arg | |
| ENST00000696621.1:c.*177G>A (FANCL) | ENSP00000512760.1:n.*177G>A | |
| ENST00000696622.1:n.2761G>A (FANCL) | ||
| ENST00000696623.1:n.996G>A (FANCL) | ||
| ENST00000696624.1:c.961G>A (FANCL) | ENSP00000512761.1:p.Gly321Arg | |
| ENST00000696625.1:c.*480G>A (FANCL) | ENSP00000512762.1:n.*480G>A | |
| ENST00000696634.1:c.743G>A (FANCL) | ENSP00000512770.1:n.743G>A | |
| ENST00000696635.1:c.1006G>A (FANCL) | ENSP00000512771.1:p.Gly336Arg | |
| ENST00000696636.1:n.3482G>A (FANCL) | ||
| ENST00000696637.1:n.8103G>A (FANCL) | ||
| ENST00000696638.1:n.1045G>A (FANCL) | ||
| ENST00000696639.1:n.3108G>A (FANCL) | ||
| ENST00000233741.9:c.1030G>A (FANCL) MANE Select | ENSP00000233741.5:p.Gly344Arg | |
| ENST00000233741.8:c.1030G>A (FANCL) | ENSP00000233741.4:p.Gly344Arg | |
| ENST00000402135.7:c.1045G>A (FANCL) | ENSP00000385021.3:p.Gly349Arg | |
| ENST00000403295.7:c.946G>A (FANCL) | ENSP00000386097.3:p.Gly316Arg | |
| ENST00000403676.5:c.679G>A (FANCL) | ENSP00000384046.1:p.Gly227Arg | |
| ENST00000449070.5:c.853G>A (FANCL) | ENSP00000401280.1:p.Gly285Arg | |
| NM_001114636.1:c.1045G>A , LRG_501t1:c.1045G>A (FANCL) | NP_001108108.1:p.Gly349Arg | |
| NM_018062.3:c.1030G>A , LRG_501t2:c.1030G>A (FANCL) | NP_060532.2:p.Gly344Arg | |
| XM_005264395.2:c.1030G>A (FANCL) | XP_005264452.1:p.Gly344Arg | |
| XM_005264397.3:c.679G>A (FANCL) | XP_005264454.1:p.Gly227Arg | |
| XM_011532939.1:c.1090G>A (FANCL) | XP_011531241.1:p.Gly364Arg | |
| XM_011532940.1:c.1075G>A (FANCL) | XP_011531242.1:p.Gly359Arg | |
| XM_011532941.1:c.1090G>A (FANCL) | XP_011531243.1:p.Gly364Arg | |
| XM_011532942.1:c.1045G>A (FANCL) | XP_011531244.1:p.Gly349Arg | |
| XM_011532943.1:c.1291G>A (FANCL) | XP_011531245.1:p.Gly431Arg | |
| XM_011532944.1:c.739G>A (FANCL) | XP_011531246.1:p.Gly247Arg | |
| XM_011532945.1:c.694G>A (FANCL) | XP_011531247.1:p.Gly232Arg | |
| XR_939692.1:n.1029G>A (FANCL) | ||
| NR_156742.1:n.819G>A (FANCL) | ||
| XM_005264395.4:c.1030G>A (FANCL) | XP_005264452.1:p.Gly344Arg | |
| XM_005264540.4:c.*477C>T (VRK2) | XP_005264597.1:n.*477C>T | |
| XM_006712090.4:c.*854C>T (VRK2) | XP_006712153.1:n.*854C>T | |
| XM_006712092.4:c.*477C>T (VRK2) | XP_006712155.1:n.*477C>T | |
| XM_006712093.4:c.*477C>T (VRK2) | XP_006712156.1:n.*477C>T | |
| XM_011532939.3:c.1090G>A (FANCL) | XP_011531241.1:p.Gly364Arg | |
| XM_011532940.3:c.1075G>A (FANCL) | XP_011531242.1:p.Gly359Arg | |
| XM_011532941.2:c.1090G>A (FANCL) | XP_011531243.1:p.Gly364Arg | |
| XM_011532942.3:c.1045G>A (FANCL) | XP_011531244.1:p.Gly349Arg | |
| XM_011532944.2:c.739G>A (FANCL) | XP_011531246.1:p.Gly247Arg | |
| XM_011532945.2:c.694G>A (FANCL) | XP_011531247.1:p.Gly232Arg | |
| XM_011533092.3:c.*477C>T (VRK2) | XP_011531394.1:n.*477C>T | |
| XM_017004414.2:c.1075G>A (FANCL) | XP_016859903.1:p.Gly359Arg | |
| XM_017004416.1:c.679G>A (FANCL) | XP_016859905.1:p.Gly227Arg | |
| XM_017004858.2:c.*854C>T (VRK2) | XP_016860347.1:n.*854C>T | |
| XM_017004859.2:c.*477C>T (VRK2) | XP_016860348.1:n.*477C>T | |
| XM_017004860.2:c.*477C>T (VRK2) | XP_016860349.1:n.*477C>T | |
| XM_017004861.2:c.*477C>T (VRK2) | XP_016860350.1:n.*477C>T | |
| XM_017004862.2:c.*477C>T (VRK2) | XP_016860351.1:n.*477C>T | |
| XM_017004863.2:c.*477C>T (VRK2) | XP_016860352.1:n.*477C>T | |
| XM_017004864.2:c.*854C>T (VRK2) | XP_016860353.1:n.*854C>T | |
| XM_017004865.1:c.*862C>T (VRK2) | XP_016860354.1:n.*862C>T | |
| XM_017004866.1:c.*862C>T (VRK2) | XP_016860355.1:n.*862C>T | |
| XR_001738802.2:n.976G>A (FANCL) | ||
| XR_001738803.2:n.961G>A (FANCL) | ||
| XR_002959309.1:n.1672G>A (FANCL) | ||
| XR_939692.2:n.1021G>A (FANCL) | ||
| NM_001374615.1:c.1075G>A (FANCL) | NP_001361544.1:p.Gly359Arg | |
| NM_018062.4:c.1030G>A (FANCL) MANE Select | NP_060532.2:p.Gly344Arg | |
| NR_164659.1:n.911G>A (FANCL) |