Canonical Allele Identifier: CA426173751

Linked Data

MyVariant Identifiers: chr2:g.58387264A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160129A>G , CM000664.2:g.58160129A>G GRCh38
NC_000002.11:g.58387264A>G , CM000664.1:g.58387264A>G GRCh37
NC_000002.10:g.58240768A>G NCBI36
NG_007418.1:g.86251T>C , LRG_501:g.86251T>C
NG_029717.2:g.257389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1086T>C (FANCL) ENSP00000385021.3:p.Gly362=
ENST00000403295.8:c.987T>C (FANCL) ENSP00000386097.3:p.Gly329=
ENST00000403676.6:c.*634T>C (FANCL) ENSP00000384046.2:n.*634T>C
ENST00000417361.2:c.*649T>C (FANCL) ENSP00000389448.2:n.*649T>C
ENST00000427708.7:c.1116T>C (FANCL) ENSP00000400969.3:p.Gly372=
ENST00000446381.6:c.627T>C (FANCL) ENSP00000390991.2:p.Gly209=
ENST00000449070.6:c.894T>C (FANCL) ENSP00000401280.2:p.Gly298=
ENST00000470506.2:n.1585T>C (FANCL)
ENST00000696305.1:c.1014T>C (FANCL) ENSP00000512543.1:p.Gly338=
ENST00000696306.1:c.*961T>C (FANCL) ENSP00000512544.1:n.*961T>C
ENST00000696307.1:c.1056T>C (FANCL) ENSP00000512545.1:p.Gly352=
ENST00000696314.1:c.*124T>C (FANCL) ENSP00000512552.1:n.*124T>C
ENST00000696315.1:c.*634T>C (FANCL) ENSP00000512553.1:n.*634T>C
ENST00000696316.1:c.954T>C (FANCL) ENSP00000512554.1:p.Gly318=
ENST00000696317.1:c.*44T>C (FANCL) ENSP00000512555.1:n.*44T>C
ENST00000696318.1:c.*124T>C (FANCL) ENSP00000512556.1:n.*124T>C
ENST00000696319.1:c.1029T>C (FANCL) ENSP00000512557.1:p.Gly343=
ENST00000696320.1:n.2750T>C (FANCL)
ENST00000696324.1:c.*521T>C (FANCL) ENSP00000512561.1:n.*521T>C
ENST00000696325.1:n.4154T>C (FANCL)
ENST00000696326.1:c.1131T>C (FANCL) ENSP00000512562.1:p.Gly377=
ENST00000696338.1:n.1185T>C (FANCL)
ENST00000696339.1:n.2643T>C (FANCL)
ENST00000696340.1:n.3297T>C (FANCL)
ENST00000696341.1:n.1579T>C (FANCL)
ENST00000696342.1:c.*2301T>C (FANCL) ENSP00000512569.1:n.*2301T>C
ENST00000696343.1:n.2930T>C (FANCL)
ENST00000696344.1:c.*785T>C (FANCL) ENSP00000512570.1:n.*785T>C
ENST00000696358.1:n.3744T>C (FANCL)
ENST00000696359.1:n.3421T>C (FANCL)
ENST00000696360.1:n.1856T>C (FANCL)
ENST00000696361.1:c.*1074T>C (FANCL) ENSP00000512579.1:n.*1074T>C
ENST00000696362.1:c.*521T>C (FANCL) ENSP00000512580.1:n.*521T>C
ENST00000696363.1:n.2848T>C (FANCL)
ENST00000696364.1:n.1464T>C (FANCL)
ENST00000696371.1:c.1062T>C (FANCL) ENSP00000512586.1:p.Gly354=
ENST00000696372.1:n.2160T>C (FANCL)
ENST00000696373.1:c.*2301T>C (FANCL) ENSP00000512587.1:n.*2301T>C
ENST00000696374.1:c.*439T>C (FANCL) ENSP00000512588.1:n.*439T>C
ENST00000696375.1:n.8004T>C (FANCL)
ENST00000696376.1:n.6857T>C (FANCL)
ENST00000696378.1:c.*1089T>C (FANCL) ENSP00000512589.1:n.*1089T>C
ENST00000696394.1:n.4573T>C (FANCL)
ENST00000696395.1:n.4512T>C (FANCL)
ENST00000696396.1:n.2225T>C (FANCL)
ENST00000696397.1:n.3196T>C (FANCL)
ENST00000696398.1:c.*218T>C (FANCL) ENSP00000512604.1:n.*218T>C
ENST00000696399.1:n.2345T>C (FANCL)
ENST00000696400.1:c.*835T>C (FANCL) ENSP00000512605.1:n.*835T>C
ENST00000696409.1:c.*588T>C (FANCL) ENSP00000512610.1:n.*588T>C
ENST00000696410.1:c.*552T>C (FANCL) ENSP00000512611.1:n.*552T>C
ENST00000696411.1:n.776T>C (FANCL)
ENST00000696412.1:n.1570T>C (FANCL)
ENST00000696413.1:n.1073T>C (FANCL)
ENST00000696414.1:n.2117T>C (FANCL)
ENST00000696415.1:c.*44T>C (FANCL) ENSP00000512612.1:n.*44T>C
ENST00000696416.1:n.1079T>C (FANCL)
ENST00000696432.1:n.3530T>C (FANCL)
ENST00000696433.1:c.*124T>C (FANCL) ENSP00000512627.1:n.*124T>C
ENST00000696434.1:c.909T>C (FANCL) ENSP00000512628.1:p.Gly303=
ENST00000696435.1:c.*218T>C (FANCL) ENSP00000512629.1:n.*218T>C
ENST00000696436.1:n.1025T>C (FANCL)
ENST00000696437.1:n.1488T>C (FANCL)
ENST00000696438.1:c.*904T>C (FANCL) ENSP00000512630.1:n.*904T>C
ENST00000696439.1:n.3120T>C (FANCL)
ENST00000696440.1:n.2107T>C (FANCL)
ENST00000696454.1:c.*422T>C (FANCL) ENSP00000512641.1:n.*422T>C
ENST00000696455.1:c.*124T>C (FANCL) ENSP00000512642.1:n.*124T>C
ENST00000696456.1:n.581T>C (FANCL)
ENST00000696457.1:c.*1842T>C (FANCL) ENSP00000512643.1:n.*1842T>C
ENST00000696458.1:c.*44T>C (FANCL) ENSP00000512644.1:n.*44T>C
ENST00000696459.1:c.*506T>C (FANCL) ENSP00000512645.1:n.*506T>C
ENST00000696460.1:n.1568T>C (FANCL)
ENST00000696467.1:c.*567T>C (FANCL) ENSP00000512648.1:n.*567T>C
ENST00000696468.1:c.*563T>C (FANCL) ENSP00000512649.1:n.*563T>C
ENST00000696469.1:c.*218T>C (FANCL) ENSP00000512650.1:n.*218T>C
ENST00000696470.1:n.3239T>C (FANCL)
ENST00000696471.1:n.741T>C (FANCL)
ENST00000696472.1:c.*124T>C (FANCL) ENSP00000512651.1:n.*124T>C
ENST00000696473.1:c.*754T>C (FANCL) ENSP00000512652.1:n.*754T>C
ENST00000696474.1:n.947T>C (FANCL)
ENST00000696475.1:n.2579T>C (FANCL)
ENST00000696492.1:c.*736T>C (FANCL) ENSP00000512662.1:n.*736T>C
ENST00000696493.1:c.*919T>C (FANCL) ENSP00000512663.1:n.*919T>C
ENST00000696494.1:n.1103T>C (FANCL)
ENST00000696495.1:c.*817T>C (FANCL) ENSP00000512664.1:n.*817T>C
ENST00000696496.1:n.1610T>C (FANCL)
ENST00000696497.1:n.4368T>C (FANCL)
ENST00000696498.1:n.1830T>C (FANCL)
ENST00000696499.1:c.*508T>C (FANCL) ENSP00000512665.1:n.*508T>C
ENST00000696508.1:c.*626T>C (FANCL) ENSP00000512674.1:n.*626T>C
ENST00000696509.1:c.*948T>C (FANCL) ENSP00000512675.1:n.*948T>C
ENST00000696510.1:c.543T>C (FANCL) ENSP00000512676.1:p.Gly181=
ENST00000696527.1:c.*124T>C (FANCL) ENSP00000512690.1:n.*124T>C
ENST00000696528.1:c.*124T>C (FANCL) ENSP00000512691.1:n.*124T>C
ENST00000696529.1:n.934T>C (FANCL)
ENST00000696530.1:c.867T>C (FANCL) ENSP00000512692.1:p.Gly289=
ENST00000696531.1:c.*603T>C (FANCL) ENSP00000512693.1:n.*603T>C
ENST00000696532.1:n.2218T>C (FANCL)
ENST00000696542.1:n.1009T>C (FANCL)
ENST00000696543.1:c.*124T>C (FANCL) ENSP00000512703.1:n.*124T>C
ENST00000696544.1:c.*124T>C (FANCL) ENSP00000512704.1:n.*124T>C
ENST00000696545.1:c.*739T>C (FANCL) ENSP00000512705.1:n.*739T>C
ENST00000696546.1:c.*850T>C (FANCL) ENSP00000512706.1:n.*850T>C
ENST00000696547.1:c.1059T>C (FANCL) ENSP00000512707.1:p.Gly353=
ENST00000696548.1:c.*1275T>C (FANCL) ENSP00000512708.1:n.*1275T>C
ENST00000696564.1:c.*124T>C (FANCL) ENSP00000512722.1:n.*124T>C
ENST00000696565.1:c.*124T>C (FANCL) ENSP00000512723.1:n.*124T>C
ENST00000696566.1:n.3659T>C (FANCL)
ENST00000696567.1:c.966T>C (FANCL) ENSP00000512724.1:p.Gly322=
ENST00000696568.1:n.497T>C (FANCL)
ENST00000696569.1:n.1180T>C (FANCL)
ENST00000696570.1:c.*393T>C (FANCL) ENSP00000512725.1:n.*393T>C
ENST00000696619.1:n.2627T>C (FANCL)
ENST00000696620.1:c.663T>C (FANCL) ENSP00000512759.1:p.Gly221=
ENST00000696621.1:c.*218T>C (FANCL) ENSP00000512760.1:n.*218T>C
ENST00000696622.1:n.2802T>C (FANCL)
ENST00000696623.1:n.1037T>C (FANCL)
ENST00000696624.1:c.1002T>C (FANCL) ENSP00000512761.1:p.Gly334=
ENST00000696625.1:c.*521T>C (FANCL) ENSP00000512762.1:n.*521T>C
ENST00000696634.1:c.784T>C (FANCL) ENSP00000512770.1:n.784T>C
ENST00000696635.1:c.1047T>C (FANCL) ENSP00000512771.1:p.Gly349=
ENST00000696636.1:n.3523T>C (FANCL)
ENST00000696637.1:n.8144T>C (FANCL)
ENST00000696638.1:n.1086T>C (FANCL)
ENST00000696639.1:n.3149T>C (FANCL)
ENST00000233741.9:c.1071T>C (FANCL) MANE Select ENSP00000233741.5:p.Gly357=
ENST00000233741.8:c.1071T>C (FANCL) ENSP00000233741.4:p.Gly357=
ENST00000402135.7:c.1086T>C (FANCL) ENSP00000385021.3:p.Gly362=
ENST00000403295.7:c.987T>C (FANCL) ENSP00000386097.3:p.Gly329=
ENST00000403676.5:c.720T>C (FANCL) ENSP00000384046.1:p.Gly240=
ENST00000449070.5:c.894T>C (FANCL) ENSP00000401280.1:p.Gly298=
NM_001114636.1:c.1086T>C , LRG_501t1:c.1086T>C (FANCL) NP_001108108.1:p.Gly362=
NM_018062.3:c.1071T>C , LRG_501t2:c.1071T>C (FANCL) NP_060532.2:p.Gly357=
XM_005264395.2:c.1071T>C (FANCL) XP_005264452.1:p.Gly357=
XM_005264397.3:c.720T>C (FANCL) XP_005264454.1:p.Gly240=
XM_011532939.1:c.1131T>C (FANCL) XP_011531241.1:p.Gly377=
XM_011532940.1:c.1116T>C (FANCL) XP_011531242.1:p.Gly372=
XM_011532941.1:c.1131T>C (FANCL) XP_011531243.1:p.Gly377=
XM_011532942.1:c.1086T>C (FANCL) XP_011531244.1:p.Gly362=
XM_011532943.1:c.1332T>C (FANCL) XP_011531245.1:p.Gly444=
XM_011532944.1:c.780T>C (FANCL) XP_011531246.1:p.Gly260=
XM_011532945.1:c.735T>C (FANCL) XP_011531247.1:p.Gly245=
XR_939692.1:n.1070T>C (FANCL)
NR_156742.1:n.860T>C (FANCL)
XM_005264395.4:c.1071T>C (FANCL) XP_005264452.1:p.Gly357=
XM_005264540.4:c.*436A>G (VRK2) XP_005264597.1:n.*436A>G
XM_006712090.4:c.*813A>G (VRK2) XP_006712153.1:n.*813A>G
XM_006712092.4:c.*436A>G (VRK2) XP_006712155.1:n.*436A>G
XM_006712093.4:c.*436A>G (VRK2) XP_006712156.1:n.*436A>G
XM_011532939.3:c.1131T>C (FANCL) XP_011531241.1:p.Gly377=
XM_011532940.3:c.1116T>C (FANCL) XP_011531242.1:p.Gly372=
XM_011532941.2:c.1131T>C (FANCL) XP_011531243.1:p.Gly377=
XM_011532942.3:c.1086T>C (FANCL) XP_011531244.1:p.Gly362=
XM_011532944.2:c.780T>C (FANCL) XP_011531246.1:p.Gly260=
XM_011532945.2:c.735T>C (FANCL) XP_011531247.1:p.Gly245=
XM_011533092.3:c.*436A>G (VRK2) XP_011531394.1:n.*436A>G
XM_017004414.2:c.1116T>C (FANCL) XP_016859903.1:p.Gly372=
XM_017004416.1:c.720T>C (FANCL) XP_016859905.1:p.Gly240=
XM_017004858.2:c.*813A>G (VRK2) XP_016860347.1:n.*813A>G
XM_017004859.2:c.*436A>G (VRK2) XP_016860348.1:n.*436A>G
XM_017004860.2:c.*436A>G (VRK2) XP_016860349.1:n.*436A>G
XM_017004861.2:c.*436A>G (VRK2) XP_016860350.1:n.*436A>G
XM_017004862.2:c.*436A>G (VRK2) XP_016860351.1:n.*436A>G
XM_017004863.2:c.*436A>G (VRK2) XP_016860352.1:n.*436A>G
XM_017004864.2:c.*813A>G (VRK2) XP_016860353.1:n.*813A>G
XM_017004865.1:c.*821A>G (VRK2) XP_016860354.1:n.*821A>G
XM_017004866.1:c.*821A>G (VRK2) XP_016860355.1:n.*821A>G
XR_001738802.2:n.1017T>C (FANCL)
XR_001738803.2:n.1002T>C (FANCL)
XR_002959309.1:n.1713T>C (FANCL)
XR_939692.2:n.1062T>C (FANCL)
NM_001374615.1:c.1116T>C (FANCL) NP_001361544.1:p.Gly372=
NM_018062.4:c.1071T>C (FANCL) MANE Select NP_060532.2:p.Gly357=
NR_164659.1:n.952T>C (FANCL)