Canonical Allele Identifier: CA346930880
Gene: FANCL HGNC NCBI
VRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.58387245T>C (hg19) chr2:g.58160110T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160110T>C , CM000664.2:g.58160110T>C GRCh38
NC_000002.11:g.58387245T>C , CM000664.1:g.58387245T>C GRCh37
NC_000002.10:g.58240749T>C NCBI36
NG_007418.1:g.86270A>G , LRG_501:g.86270A>G
NG_029717.2:g.257370T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1105A>G (FANCL) ENSP00000385021.3:p.Lys369Glu
ENST00000403295.8:c.1006A>G (FANCL) ENSP00000386097.3:p.Lys336Glu
ENST00000403676.6:c.*653A>G (FANCL) ENSP00000384046.2:n.*653A>G
ENST00000417361.2:c.*668A>G (FANCL) ENSP00000389448.2:n.*668A>G
ENST00000427708.7:c.1135A>G (FANCL) ENSP00000400969.3:p.Lys379Glu
ENST00000446381.6:c.646A>G (FANCL) ENSP00000390991.2:p.Lys216Glu
ENST00000449070.6:c.913A>G (FANCL) ENSP00000401280.2:p.Lys305Glu
ENST00000470506.2:n.1604A>G (FANCL)
ENST00000696305.1:c.1033A>G (FANCL) ENSP00000512543.1:p.Lys345Glu
ENST00000696306.1:c.*980A>G (FANCL) ENSP00000512544.1:n.*980A>G
ENST00000696307.1:c.1075A>G (FANCL) ENSP00000512545.1:p.Lys359Glu
ENST00000696314.1:c.*143A>G (FANCL) ENSP00000512552.1:n.*143A>G
ENST00000696315.1:c.*653A>G (FANCL) ENSP00000512553.1:n.*653A>G
ENST00000696316.1:c.973A>G (FANCL) ENSP00000512554.1:p.Lys325Glu
ENST00000696317.1:c.*63A>G (FANCL) ENSP00000512555.1:n.*63A>G
ENST00000696318.1:c.*143A>G (FANCL) ENSP00000512556.1:n.*143A>G
ENST00000696319.1:c.1048A>G (FANCL) ENSP00000512557.1:p.Lys350Glu
ENST00000696320.1:n.2769A>G (FANCL)
ENST00000696324.1:c.*540A>G (FANCL) ENSP00000512561.1:n.*540A>G
ENST00000696325.1:n.4173A>G (FANCL)
ENST00000696326.1:c.1150A>G (FANCL) ENSP00000512562.1:p.Lys384Glu
ENST00000696338.1:n.1204A>G (FANCL)
ENST00000696339.1:n.2662A>G (FANCL)
ENST00000696340.1:n.3316A>G (FANCL)
ENST00000696341.1:n.1598A>G (FANCL)
ENST00000696342.1:c.*2320A>G (FANCL) ENSP00000512569.1:n.*2320A>G
ENST00000696343.1:n.2949A>G (FANCL)
ENST00000696344.1:c.*804A>G (FANCL) ENSP00000512570.1:n.*804A>G
ENST00000696358.1:n.3763A>G (FANCL)
ENST00000696359.1:n.3440A>G (FANCL)
ENST00000696360.1:n.1875A>G (FANCL)
ENST00000696361.1:c.*1093A>G (FANCL) ENSP00000512579.1:n.*1093A>G
ENST00000696362.1:c.*540A>G (FANCL) ENSP00000512580.1:n.*540A>G
ENST00000696363.1:n.2867A>G (FANCL)
ENST00000696364.1:n.1483A>G (FANCL)
ENST00000696371.1:c.1081A>G (FANCL) ENSP00000512586.1:p.Lys361Glu
ENST00000696372.1:n.2179A>G (FANCL)
ENST00000696373.1:c.*2320A>G (FANCL) ENSP00000512587.1:n.*2320A>G
ENST00000696374.1:c.*458A>G (FANCL) ENSP00000512588.1:n.*458A>G
ENST00000696375.1:n.8023A>G (FANCL)
ENST00000696376.1:n.6876A>G (FANCL)
ENST00000696378.1:c.*1108A>G (FANCL) ENSP00000512589.1:n.*1108A>G
ENST00000696394.1:n.4592A>G (FANCL)
ENST00000696395.1:n.4531A>G (FANCL)
ENST00000696396.1:n.2244A>G (FANCL)
ENST00000696397.1:n.3215A>G (FANCL)
ENST00000696398.1:c.*237A>G (FANCL) ENSP00000512604.1:n.*237A>G
ENST00000696399.1:n.2364A>G (FANCL)
ENST00000696400.1:c.*854A>G (FANCL) ENSP00000512605.1:n.*854A>G
ENST00000696409.1:c.*607A>G (FANCL) ENSP00000512610.1:n.*607A>G
ENST00000696410.1:c.*571A>G (FANCL) ENSP00000512611.1:n.*571A>G
ENST00000696411.1:n.795A>G (FANCL)
ENST00000696412.1:n.1589A>G (FANCL)
ENST00000696413.1:n.1092A>G (FANCL)
ENST00000696414.1:n.2136A>G (FANCL)
ENST00000696415.1:c.*63A>G (FANCL) ENSP00000512612.1:n.*63A>G
ENST00000696416.1:n.1098A>G (FANCL)
ENST00000696432.1:n.3549A>G (FANCL)
ENST00000696433.1:c.*143A>G (FANCL) ENSP00000512627.1:n.*143A>G
ENST00000696434.1:c.928A>G (FANCL) ENSP00000512628.1:p.Lys310Glu
ENST00000696435.1:c.*237A>G (FANCL) ENSP00000512629.1:n.*237A>G
ENST00000696436.1:n.1044A>G (FANCL)
ENST00000696437.1:n.1507A>G (FANCL)
ENST00000696438.1:c.*923A>G (FANCL) ENSP00000512630.1:n.*923A>G
ENST00000696439.1:n.3139A>G (FANCL)
ENST00000696440.1:n.2126A>G (FANCL)
ENST00000696454.1:c.*441A>G (FANCL) ENSP00000512641.1:n.*441A>G
ENST00000696455.1:c.*143A>G (FANCL) ENSP00000512642.1:n.*143A>G
ENST00000696456.1:n.600A>G (FANCL)
ENST00000696457.1:c.*1861A>G (FANCL) ENSP00000512643.1:n.*1861A>G
ENST00000696458.1:c.*63A>G (FANCL) ENSP00000512644.1:n.*63A>G
ENST00000696459.1:c.*525A>G (FANCL) ENSP00000512645.1:n.*525A>G
ENST00000696460.1:n.1587A>G (FANCL)
ENST00000696467.1:c.*586A>G (FANCL) ENSP00000512648.1:n.*586A>G
ENST00000696468.1:c.*582A>G (FANCL) ENSP00000512649.1:n.*582A>G
ENST00000696469.1:c.*237A>G (FANCL) ENSP00000512650.1:n.*237A>G
ENST00000696470.1:n.3258A>G (FANCL)
ENST00000696471.1:n.760A>G (FANCL)
ENST00000696472.1:c.*143A>G (FANCL) ENSP00000512651.1:n.*143A>G
ENST00000696473.1:c.*773A>G (FANCL) ENSP00000512652.1:n.*773A>G
ENST00000696474.1:n.966A>G (FANCL)
ENST00000696475.1:n.2598A>G (FANCL)
ENST00000696492.1:c.*755A>G (FANCL) ENSP00000512662.1:n.*755A>G
ENST00000696493.1:c.*938A>G (FANCL) ENSP00000512663.1:n.*938A>G
ENST00000696494.1:n.1122A>G (FANCL)
ENST00000696495.1:c.*836A>G (FANCL) ENSP00000512664.1:n.*836A>G
ENST00000696496.1:n.1629A>G (FANCL)
ENST00000696497.1:n.4387A>G (FANCL)
ENST00000696498.1:n.1849A>G (FANCL)
ENST00000696499.1:c.*527A>G (FANCL) ENSP00000512665.1:n.*527A>G
ENST00000696508.1:c.*645A>G (FANCL) ENSP00000512674.1:n.*645A>G
ENST00000696509.1:c.*967A>G (FANCL) ENSP00000512675.1:n.*967A>G
ENST00000696510.1:c.562A>G (FANCL) ENSP00000512676.1:p.Lys188Glu
ENST00000696527.1:c.*143A>G (FANCL) ENSP00000512690.1:n.*143A>G
ENST00000696528.1:c.*143A>G (FANCL) ENSP00000512691.1:n.*143A>G
ENST00000696529.1:n.953A>G (FANCL)
ENST00000696530.1:c.886A>G (FANCL) ENSP00000512692.1:p.Lys296Glu
ENST00000696531.1:c.*622A>G (FANCL) ENSP00000512693.1:n.*622A>G
ENST00000696532.1:n.2237A>G (FANCL)
ENST00000696542.1:n.1028A>G (FANCL)
ENST00000696543.1:c.*143A>G (FANCL) ENSP00000512703.1:n.*143A>G
ENST00000696544.1:c.*143A>G (FANCL) ENSP00000512704.1:n.*143A>G
ENST00000696545.1:c.*758A>G (FANCL) ENSP00000512705.1:n.*758A>G
ENST00000696546.1:c.*869A>G (FANCL) ENSP00000512706.1:n.*869A>G
ENST00000696547.1:c.1078A>G (FANCL) ENSP00000512707.1:p.Lys360Glu
ENST00000696548.1:c.*1294A>G (FANCL) ENSP00000512708.1:n.*1294A>G
ENST00000696564.1:c.*143A>G (FANCL) ENSP00000512722.1:n.*143A>G
ENST00000696565.1:c.*143A>G (FANCL) ENSP00000512723.1:n.*143A>G
ENST00000696566.1:n.3678A>G (FANCL)
ENST00000696567.1:c.985A>G (FANCL) ENSP00000512724.1:p.Lys329Glu
ENST00000696568.1:n.516A>G (FANCL)
ENST00000696569.1:n.1199A>G (FANCL)
ENST00000696570.1:c.*412A>G (FANCL) ENSP00000512725.1:n.*412A>G
ENST00000696619.1:n.2646A>G (FANCL)
ENST00000696620.1:c.682A>G (FANCL) ENSP00000512759.1:p.Lys228Glu
ENST00000696621.1:c.*237A>G (FANCL) ENSP00000512760.1:n.*237A>G
ENST00000696622.1:n.2821A>G (FANCL)
ENST00000696623.1:n.1056A>G (FANCL)
ENST00000696624.1:c.1021A>G (FANCL) ENSP00000512761.1:p.Lys341Glu
ENST00000696625.1:c.*540A>G (FANCL) ENSP00000512762.1:n.*540A>G
ENST00000696634.1:c.803A>G (FANCL) ENSP00000512770.1:n.803A>G
ENST00000696635.1:c.1066A>G (FANCL) ENSP00000512771.1:p.Lys356Glu
ENST00000696636.1:n.3542A>G (FANCL)
ENST00000696637.1:n.8163A>G (FANCL)
ENST00000696638.1:n.1105A>G (FANCL)
ENST00000696639.1:n.3168A>G (FANCL)
ENST00000233741.9:c.1090A>G (FANCL) MANE Select ENSP00000233741.5:p.Lys364Glu
ENST00000233741.8:c.1090A>G (FANCL) ENSP00000233741.4:p.Lys364Glu
ENST00000402135.7:c.1105A>G (FANCL) ENSP00000385021.3:p.Lys369Glu
ENST00000403295.7:c.1006A>G (FANCL) ENSP00000386097.3:p.Lys336Glu
ENST00000403676.5:c.739A>G (FANCL) ENSP00000384046.1:p.Lys247Glu
NM_001114636.1:c.1105A>G , LRG_501t1:c.1105A>G (FANCL) NP_001108108.1:p.Lys369Glu
NM_018062.3:c.1090A>G , LRG_501t2:c.1090A>G (FANCL) NP_060532.2:p.Lys364Glu
XM_005264395.2:c.1090A>G (FANCL) XP_005264452.1:p.Lys364Glu
XM_005264397.3:c.739A>G (FANCL) XP_005264454.1:p.Lys247Glu
XM_011532939.1:c.1150A>G (FANCL) XP_011531241.1:p.Lys384Glu
XM_011532940.1:c.1135A>G (FANCL) XP_011531242.1:p.Lys379Glu
XM_011532941.1:c.1150A>G (FANCL) XP_011531243.1:p.Lys384Glu
XM_011532942.1:c.1105A>G (FANCL) XP_011531244.1:p.Lys369Glu
XM_011532943.1:c.1351A>G (FANCL) XP_011531245.1:p.Lys451Glu
XM_011532944.1:c.799A>G (FANCL) XP_011531246.1:p.Lys267Glu
XM_011532945.1:c.754A>G (FANCL) XP_011531247.1:p.Lys252Glu
XR_939692.1:n.1089A>G (FANCL)
NR_156742.1:n.879A>G (FANCL)
XM_005264395.4:c.1090A>G (FANCL) XP_005264452.1:p.Lys364Glu
XM_005264540.4:c.*417T>C (VRK2) XP_005264597.1:n.*417T>C
XM_006712090.4:c.*794T>C (VRK2) XP_006712153.1:n.*794T>C
XM_006712092.4:c.*417T>C (VRK2) XP_006712155.1:n.*417T>C
XM_006712093.4:c.*417T>C (VRK2) XP_006712156.1:n.*417T>C
XM_011532939.3:c.1150A>G (FANCL) XP_011531241.1:p.Lys384Glu
XM_011532940.3:c.1135A>G (FANCL) XP_011531242.1:p.Lys379Glu
XM_011532941.2:c.1150A>G (FANCL) XP_011531243.1:p.Lys384Glu
XM_011532942.3:c.1105A>G (FANCL) XP_011531244.1:p.Lys369Glu
XM_011532944.2:c.799A>G (FANCL) XP_011531246.1:p.Lys267Glu
XM_011532945.2:c.754A>G (FANCL) XP_011531247.1:p.Lys252Glu
XM_011533092.3:c.*417T>C (VRK2) XP_011531394.1:n.*417T>C
XM_017004414.2:c.1135A>G (FANCL) XP_016859903.1:p.Lys379Glu
XM_017004416.1:c.739A>G (FANCL) XP_016859905.1:p.Lys247Glu
XM_017004858.2:c.*794T>C (VRK2) XP_016860347.1:n.*794T>C
XM_017004859.2:c.*417T>C (VRK2) XP_016860348.1:n.*417T>C
XM_017004860.2:c.*417T>C (VRK2) XP_016860349.1:n.*417T>C
XM_017004861.2:c.*417T>C (VRK2) XP_016860350.1:n.*417T>C
XM_017004862.2:c.*417T>C (VRK2) XP_016860351.1:n.*417T>C
XM_017004863.2:c.*417T>C (VRK2) XP_016860352.1:n.*417T>C
XM_017004864.2:c.*794T>C (VRK2) XP_016860353.1:n.*794T>C
XM_017004865.1:c.*802T>C (VRK2) XP_016860354.1:n.*802T>C
XM_017004866.1:c.*802T>C (VRK2) XP_016860355.1:n.*802T>C
XR_001738802.2:n.1036A>G (FANCL)
XR_001738803.2:n.1021A>G (FANCL)
XR_002959309.1:n.1732A>G (FANCL)
XR_939692.2:n.1081A>G (FANCL)
NM_001374615.1:c.1135A>G (FANCL) NP_001361544.1:p.Lys379Glu
NM_018062.4:c.1090A>G (FANCL) MANE Select NP_060532.2:p.Lys364Glu
NR_164659.1:n.971A>G (FANCL)
Search 100 bp 5'
Search 100 bp 3'