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.58387294A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160159A>C , CM000664.2:g.58160159A>C | GRCh38 |
| NC_000002.11:g.58387294A>C , CM000664.1:g.58387294A>C | GRCh37 |
| NC_000002.10:g.58240798A>C | NCBI36 |
| NG_007418.1:g.86221T>G , LRG_501:g.86221T>G | |
| NG_029717.2:g.257419A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1056T>G (FANCL) | ENSP00000385021.3:p.Thr352= | |
| ENST00000403295.8:c.957T>G (FANCL) | ENSP00000386097.3:p.Thr319= | |
| ENST00000403676.6:c.*604T>G (FANCL) | ENSP00000384046.2:n.*604T>G | |
| ENST00000417361.2:c.*619T>G (FANCL) | ENSP00000389448.2:n.*619T>G | |
| ENST00000427708.7:c.1086T>G (FANCL) | ENSP00000400969.3:p.Thr362= | |
| ENST00000446381.6:c.597T>G (FANCL) | ENSP00000390991.2:p.Thr199= | |
| ENST00000449070.6:c.864T>G (FANCL) | ENSP00000401280.2:p.Thr288= | |
| ENST00000470506.2:n.1555T>G (FANCL) | ||
| ENST00000696305.1:c.984T>G (FANCL) | ENSP00000512543.1:p.Thr328= | |
| ENST00000696306.1:c.*931T>G (FANCL) | ENSP00000512544.1:n.*931T>G | |
| ENST00000696307.1:c.1026T>G (FANCL) | ENSP00000512545.1:p.Thr342= | |
| ENST00000696314.1:c.*94T>G (FANCL) | ENSP00000512552.1:n.*94T>G | |
| ENST00000696315.1:c.*604T>G (FANCL) | ENSP00000512553.1:n.*604T>G | |
| ENST00000696316.1:c.924T>G (FANCL) | ENSP00000512554.1:p.Thr308= | |
| ENST00000696317.1:c.*14T>G (FANCL) | ENSP00000512555.1:n.*14T>G | |
| ENST00000696318.1:c.*94T>G (FANCL) | ENSP00000512556.1:n.*94T>G | |
| ENST00000696319.1:c.999T>G (FANCL) | ENSP00000512557.1:p.Thr333= | |
| ENST00000696320.1:n.2720T>G (FANCL) | ||
| ENST00000696324.1:c.*491T>G (FANCL) | ENSP00000512561.1:n.*491T>G | |
| ENST00000696325.1:n.4124T>G (FANCL) | ||
| ENST00000696326.1:c.1101T>G (FANCL) | ENSP00000512562.1:p.Thr367= | |
| ENST00000696338.1:n.1155T>G (FANCL) | ||
| ENST00000696339.1:n.2613T>G (FANCL) | ||
| ENST00000696340.1:n.3267T>G (FANCL) | ||
| ENST00000696341.1:n.1549T>G (FANCL) | ||
| ENST00000696342.1:c.*2271T>G (FANCL) | ENSP00000512569.1:n.*2271T>G | |
| ENST00000696343.1:n.2900T>G (FANCL) | ||
| ENST00000696344.1:c.*755T>G (FANCL) | ENSP00000512570.1:n.*755T>G | |
| ENST00000696358.1:n.3714T>G (FANCL) | ||
| ENST00000696359.1:n.3391T>G (FANCL) | ||
| ENST00000696360.1:n.1826T>G (FANCL) | ||
| ENST00000696361.1:c.*1044T>G (FANCL) | ENSP00000512579.1:n.*1044T>G | |
| ENST00000696362.1:c.*491T>G (FANCL) | ENSP00000512580.1:n.*491T>G | |
| ENST00000696363.1:n.2818T>G (FANCL) | ||
| ENST00000696364.1:n.1434T>G (FANCL) | ||
| ENST00000696371.1:c.1032T>G (FANCL) | ENSP00000512586.1:p.Thr344= | |
| ENST00000696372.1:n.2130T>G (FANCL) | ||
| ENST00000696373.1:c.*2271T>G (FANCL) | ENSP00000512587.1:n.*2271T>G | |
| ENST00000696374.1:c.*409T>G (FANCL) | ENSP00000512588.1:n.*409T>G | |
| ENST00000696375.1:n.7974T>G (FANCL) | ||
| ENST00000696376.1:n.6827T>G (FANCL) | ||
| ENST00000696378.1:c.*1059T>G (FANCL) | ENSP00000512589.1:n.*1059T>G | |
| ENST00000696394.1:n.4543T>G (FANCL) | ||
| ENST00000696395.1:n.4482T>G (FANCL) | ||
| ENST00000696396.1:n.2195T>G (FANCL) | ||
| ENST00000696397.1:n.3166T>G (FANCL) | ||
| ENST00000696398.1:c.*188T>G (FANCL) | ENSP00000512604.1:n.*188T>G | |
| ENST00000696399.1:n.2315T>G (FANCL) | ||
| ENST00000696400.1:c.*805T>G (FANCL) | ENSP00000512605.1:n.*805T>G | |
| ENST00000696409.1:c.*558T>G (FANCL) | ENSP00000512610.1:n.*558T>G | |
| ENST00000696410.1:c.*522T>G (FANCL) | ENSP00000512611.1:n.*522T>G | |
| ENST00000696411.1:n.746T>G (FANCL) | ||
| ENST00000696412.1:n.1540T>G (FANCL) | ||
| ENST00000696413.1:n.1043T>G (FANCL) | ||
| ENST00000696414.1:n.2087T>G (FANCL) | ||
| ENST00000696415.1:c.*14T>G (FANCL) | ENSP00000512612.1:n.*14T>G | |
| ENST00000696416.1:n.1049T>G (FANCL) | ||
| ENST00000696432.1:n.3500T>G (FANCL) | ||
| ENST00000696433.1:c.*94T>G (FANCL) | ENSP00000512627.1:n.*94T>G | |
| ENST00000696434.1:c.879T>G (FANCL) | ENSP00000512628.1:p.Thr293= | |
| ENST00000696435.1:c.*188T>G (FANCL) | ENSP00000512629.1:n.*188T>G | |
| ENST00000696436.1:n.995T>G (FANCL) | ||
| ENST00000696437.1:n.1458T>G (FANCL) | ||
| ENST00000696438.1:c.*874T>G (FANCL) | ENSP00000512630.1:n.*874T>G | |
| ENST00000696439.1:n.3090T>G (FANCL) | ||
| ENST00000696440.1:n.2077T>G (FANCL) | ||
| ENST00000696454.1:c.*392T>G (FANCL) | ENSP00000512641.1:n.*392T>G | |
| ENST00000696455.1:c.*94T>G (FANCL) | ENSP00000512642.1:n.*94T>G | |
| ENST00000696456.1:n.551T>G (FANCL) | ||
| ENST00000696457.1:c.*1812T>G (FANCL) | ENSP00000512643.1:n.*1812T>G | |
| ENST00000696458.1:c.*14T>G (FANCL) | ENSP00000512644.1:n.*14T>G | |
| ENST00000696459.1:c.*476T>G (FANCL) | ENSP00000512645.1:n.*476T>G | |
| ENST00000696460.1:n.1538T>G (FANCL) | ||
| ENST00000696467.1:c.*537T>G (FANCL) | ENSP00000512648.1:n.*537T>G | |
| ENST00000696468.1:c.*533T>G (FANCL) | ENSP00000512649.1:n.*533T>G | |
| ENST00000696469.1:c.*188T>G (FANCL) | ENSP00000512650.1:n.*188T>G | |
| ENST00000696470.1:n.3209T>G (FANCL) | ||
| ENST00000696471.1:n.711T>G (FANCL) | ||
| ENST00000696472.1:c.*94T>G (FANCL) | ENSP00000512651.1:n.*94T>G | |
| ENST00000696473.1:c.*724T>G (FANCL) | ENSP00000512652.1:n.*724T>G | |
| ENST00000696474.1:n.917T>G (FANCL) | ||
| ENST00000696475.1:n.2549T>G (FANCL) | ||
| ENST00000696492.1:c.*706T>G (FANCL) | ENSP00000512662.1:n.*706T>G | |
| ENST00000696493.1:c.*889T>G (FANCL) | ENSP00000512663.1:n.*889T>G | |
| ENST00000696494.1:n.1073T>G (FANCL) | ||
| ENST00000696495.1:c.*787T>G (FANCL) | ENSP00000512664.1:n.*787T>G | |
| ENST00000696496.1:n.1580T>G (FANCL) | ||
| ENST00000696497.1:n.4338T>G (FANCL) | ||
| ENST00000696498.1:n.1800T>G (FANCL) | ||
| ENST00000696499.1:c.*478T>G (FANCL) | ENSP00000512665.1:n.*478T>G | |
| ENST00000696508.1:c.*596T>G (FANCL) | ENSP00000512674.1:n.*596T>G | |
| ENST00000696509.1:c.*918T>G (FANCL) | ENSP00000512675.1:n.*918T>G | |
| ENST00000696510.1:c.513T>G (FANCL) | ENSP00000512676.1:p.Thr171= | |
| ENST00000696527.1:c.*94T>G (FANCL) | ENSP00000512690.1:n.*94T>G | |
| ENST00000696528.1:c.*94T>G (FANCL) | ENSP00000512691.1:n.*94T>G | |
| ENST00000696529.1:n.904T>G (FANCL) | ||
| ENST00000696530.1:c.837T>G (FANCL) | ENSP00000512692.1:p.Thr279= | |
| ENST00000696531.1:c.*573T>G (FANCL) | ENSP00000512693.1:n.*573T>G | |
| ENST00000696532.1:n.2188T>G (FANCL) | ||
| ENST00000696542.1:n.979T>G (FANCL) | ||
| ENST00000696543.1:c.*94T>G (FANCL) | ENSP00000512703.1:n.*94T>G | |
| ENST00000696544.1:c.*94T>G (FANCL) | ENSP00000512704.1:n.*94T>G | |
| ENST00000696545.1:c.*709T>G (FANCL) | ENSP00000512705.1:n.*709T>G | |
| ENST00000696546.1:c.*820T>G (FANCL) | ENSP00000512706.1:n.*820T>G | |
| ENST00000696547.1:c.1029T>G (FANCL) | ENSP00000512707.1:p.Thr343= | |
| ENST00000696548.1:c.*1245T>G (FANCL) | ENSP00000512708.1:n.*1245T>G | |
| ENST00000696564.1:c.*94T>G (FANCL) | ENSP00000512722.1:n.*94T>G | |
| ENST00000696565.1:c.*94T>G (FANCL) | ENSP00000512723.1:n.*94T>G | |
| ENST00000696566.1:n.3629T>G (FANCL) | ||
| ENST00000696567.1:c.936T>G (FANCL) | ENSP00000512724.1:p.Thr312= | |
| ENST00000696568.1:n.467T>G (FANCL) | ||
| ENST00000696569.1:n.1150T>G (FANCL) | ||
| ENST00000696570.1:c.*363T>G (FANCL) | ENSP00000512725.1:n.*363T>G | |
| ENST00000696619.1:n.2597T>G (FANCL) | ||
| ENST00000696620.1:c.633T>G (FANCL) | ENSP00000512759.1:p.Thr211= | |
| ENST00000696621.1:c.*188T>G (FANCL) | ENSP00000512760.1:n.*188T>G | |
| ENST00000696622.1:n.2772T>G (FANCL) | ||
| ENST00000696623.1:n.1007T>G (FANCL) | ||
| ENST00000696624.1:c.972T>G (FANCL) | ENSP00000512761.1:p.Thr324= | |
| ENST00000696625.1:c.*491T>G (FANCL) | ENSP00000512762.1:n.*491T>G | |
| ENST00000696634.1:c.754T>G (FANCL) | ENSP00000512770.1:n.754T>G | |
| ENST00000696635.1:c.1017T>G (FANCL) | ENSP00000512771.1:p.Thr339= | |
| ENST00000696636.1:n.3493T>G (FANCL) | ||
| ENST00000696637.1:n.8114T>G (FANCL) | ||
| ENST00000696638.1:n.1056T>G (FANCL) | ||
| ENST00000696639.1:n.3119T>G (FANCL) | ||
| ENST00000233741.9:c.1041T>G (FANCL) MANE Select | ENSP00000233741.5:p.Thr347= | |
| ENST00000233741.8:c.1041T>G (FANCL) | ENSP00000233741.4:p.Thr347= | |
| ENST00000402135.7:c.1056T>G (FANCL) | ENSP00000385021.3:p.Thr352= | |
| ENST00000403295.7:c.957T>G (FANCL) | ENSP00000386097.3:p.Thr319= | |
| ENST00000403676.5:c.690T>G (FANCL) | ENSP00000384046.1:p.Thr230= | |
| ENST00000449070.5:c.864T>G (FANCL) | ENSP00000401280.1:p.Thr288= | |
| NM_001114636.1:c.1056T>G , LRG_501t1:c.1056T>G (FANCL) | NP_001108108.1:p.Thr352= | |
| NM_018062.3:c.1041T>G , LRG_501t2:c.1041T>G (FANCL) | NP_060532.2:p.Thr347= | |
| XM_005264395.2:c.1041T>G (FANCL) | XP_005264452.1:p.Thr347= | |
| XM_005264397.3:c.690T>G (FANCL) | XP_005264454.1:p.Thr230= | |
| XM_011532939.1:c.1101T>G (FANCL) | XP_011531241.1:p.Thr367= | |
| XM_011532940.1:c.1086T>G (FANCL) | XP_011531242.1:p.Thr362= | |
| XM_011532941.1:c.1101T>G (FANCL) | XP_011531243.1:p.Thr367= | |
| XM_011532942.1:c.1056T>G (FANCL) | XP_011531244.1:p.Thr352= | |
| XM_011532943.1:c.1302T>G (FANCL) | XP_011531245.1:p.Thr434= | |
| XM_011532944.1:c.750T>G (FANCL) | XP_011531246.1:p.Thr250= | |
| XM_011532945.1:c.705T>G (FANCL) | XP_011531247.1:p.Thr235= | |
| XR_939692.1:n.1040T>G (FANCL) | ||
| NR_156742.1:n.830T>G (FANCL) | ||
| XM_005264395.4:c.1041T>G (FANCL) | XP_005264452.1:p.Thr347= | |
| XM_005264540.4:c.*466A>C (VRK2) | XP_005264597.1:n.*466A>C | |
| XM_006712090.4:c.*843A>C (VRK2) | XP_006712153.1:n.*843A>C | |
| XM_006712092.4:c.*466A>C (VRK2) | XP_006712155.1:n.*466A>C | |
| XM_006712093.4:c.*466A>C (VRK2) | XP_006712156.1:n.*466A>C | |
| XM_011532939.3:c.1101T>G (FANCL) | XP_011531241.1:p.Thr367= | |
| XM_011532940.3:c.1086T>G (FANCL) | XP_011531242.1:p.Thr362= | |
| XM_011532941.2:c.1101T>G (FANCL) | XP_011531243.1:p.Thr367= | |
| XM_011532942.3:c.1056T>G (FANCL) | XP_011531244.1:p.Thr352= | |
| XM_011532944.2:c.750T>G (FANCL) | XP_011531246.1:p.Thr250= | |
| XM_011532945.2:c.705T>G (FANCL) | XP_011531247.1:p.Thr235= | |
| XM_011533092.3:c.*466A>C (VRK2) | XP_011531394.1:n.*466A>C | |
| XM_017004414.2:c.1086T>G (FANCL) | XP_016859903.1:p.Thr362= | |
| XM_017004416.1:c.690T>G (FANCL) | XP_016859905.1:p.Thr230= | |
| XM_017004858.2:c.*843A>C (VRK2) | XP_016860347.1:n.*843A>C | |
| XM_017004859.2:c.*466A>C (VRK2) | XP_016860348.1:n.*466A>C | |
| XM_017004860.2:c.*466A>C (VRK2) | XP_016860349.1:n.*466A>C | |
| XM_017004861.2:c.*466A>C (VRK2) | XP_016860350.1:n.*466A>C | |
| XM_017004862.2:c.*466A>C (VRK2) | XP_016860351.1:n.*466A>C | |
| XM_017004863.2:c.*466A>C (VRK2) | XP_016860352.1:n.*466A>C | |
| XM_017004864.2:c.*843A>C (VRK2) | XP_016860353.1:n.*843A>C | |
| XM_017004865.1:c.*851A>C (VRK2) | XP_016860354.1:n.*851A>C | |
| XM_017004866.1:c.*851A>C (VRK2) | XP_016860355.1:n.*851A>C | |
| XR_001738802.2:n.987T>G (FANCL) | ||
| XR_001738803.2:n.972T>G (FANCL) | ||
| XR_002959309.1:n.1683T>G (FANCL) | ||
| XR_939692.2:n.1032T>G (FANCL) | ||
| NM_001374615.1:c.1086T>G (FANCL) | NP_001361544.1:p.Thr362= | |
| NM_018062.4:c.1041T>G (FANCL) MANE Select | NP_060532.2:p.Thr347= | |
| NR_164659.1:n.922T>G (FANCL) |