Canonical Allele Identifier: CA426173795

Linked Data

MyVariant Identifiers: chr2:g.58387308T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160173T>G , CM000664.2:g.58160173T>G GRCh38
NC_000002.11:g.58387308T>G , CM000664.1:g.58387308T>G GRCh37
NC_000002.10:g.58240812T>G NCBI36
NG_007418.1:g.86207A>C , LRG_501:g.86207A>C
NG_029717.2:g.257433T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1042A>C (FANCL) ENSP00000385021.3:p.Arg348=
ENST00000403295.8:c.943A>C (FANCL) ENSP00000386097.3:p.Arg315=
ENST00000403676.6:c.*590A>C (FANCL) ENSP00000384046.2:n.*590A>C
ENST00000417361.2:c.*605A>C (FANCL) ENSP00000389448.2:n.*605A>C
ENST00000427708.7:c.1072A>C (FANCL) ENSP00000400969.3:p.Arg358=
ENST00000446381.6:c.583A>C (FANCL) ENSP00000390991.2:p.Arg195=
ENST00000449070.6:c.850A>C (FANCL) ENSP00000401280.2:p.Arg284=
ENST00000470506.2:n.1541A>C (FANCL)
ENST00000696305.1:c.970A>C (FANCL) ENSP00000512543.1:p.Arg324=
ENST00000696306.1:c.*917A>C (FANCL) ENSP00000512544.1:n.*917A>C
ENST00000696307.1:c.1012A>C (FANCL) ENSP00000512545.1:p.Arg338=
ENST00000696314.1:c.*80A>C (FANCL) ENSP00000512552.1:n.*80A>C
ENST00000696315.1:c.*590A>C (FANCL) ENSP00000512553.1:n.*590A>C
ENST00000696316.1:c.910A>C (FANCL) ENSP00000512554.1:p.Arg304=
ENST00000696317.1:c.945A>C (FANCL) ENSP00000512555.1:p.Ter315Cys
ENST00000696318.1:c.*80A>C (FANCL) ENSP00000512556.1:n.*80A>C
ENST00000696319.1:c.985A>C (FANCL) ENSP00000512557.1:p.Arg329=
ENST00000696320.1:n.2706A>C (FANCL)
ENST00000696324.1:c.*477A>C (FANCL) ENSP00000512561.1:n.*477A>C
ENST00000696325.1:n.4110A>C (FANCL)
ENST00000696326.1:c.1087A>C (FANCL) ENSP00000512562.1:p.Arg363=
ENST00000696338.1:n.1141A>C (FANCL)
ENST00000696339.1:n.2599A>C (FANCL)
ENST00000696340.1:n.3253A>C (FANCL)
ENST00000696341.1:n.1535A>C (FANCL)
ENST00000696342.1:c.*2257A>C (FANCL) ENSP00000512569.1:n.*2257A>C
ENST00000696343.1:n.2886A>C (FANCL)
ENST00000696344.1:c.*741A>C (FANCL) ENSP00000512570.1:n.*741A>C
ENST00000696358.1:n.3700A>C (FANCL)
ENST00000696359.1:n.3377A>C (FANCL)
ENST00000696360.1:n.1812A>C (FANCL)
ENST00000696361.1:c.*1030A>C (FANCL) ENSP00000512579.1:n.*1030A>C
ENST00000696362.1:c.*477A>C (FANCL) ENSP00000512580.1:n.*477A>C
ENST00000696363.1:n.2804A>C (FANCL)
ENST00000696364.1:n.1420A>C (FANCL)
ENST00000696371.1:c.1018A>C (FANCL) ENSP00000512586.1:p.Arg340=
ENST00000696372.1:n.2116A>C (FANCL)
ENST00000696373.1:c.*2257A>C (FANCL) ENSP00000512587.1:n.*2257A>C
ENST00000696374.1:c.*395A>C (FANCL) ENSP00000512588.1:n.*395A>C
ENST00000696375.1:n.7960A>C (FANCL)
ENST00000696376.1:n.6813A>C (FANCL)
ENST00000696378.1:c.*1045A>C (FANCL) ENSP00000512589.1:n.*1045A>C
ENST00000696394.1:n.4529A>C (FANCL)
ENST00000696395.1:n.4468A>C (FANCL)
ENST00000696396.1:n.2181A>C (FANCL)
ENST00000696397.1:n.3152A>C (FANCL)
ENST00000696398.1:c.*174A>C (FANCL) ENSP00000512604.1:n.*174A>C
ENST00000696399.1:n.2301A>C (FANCL)
ENST00000696400.1:c.*791A>C (FANCL) ENSP00000512605.1:n.*791A>C
ENST00000696409.1:c.*544A>C (FANCL) ENSP00000512610.1:n.*544A>C
ENST00000696410.1:c.*508A>C (FANCL) ENSP00000512611.1:n.*508A>C
ENST00000696411.1:n.732A>C (FANCL)
ENST00000696412.1:n.1526A>C (FANCL)
ENST00000696413.1:n.1029A>C (FANCL)
ENST00000696414.1:n.2073A>C (FANCL)
ENST00000696415.1:c.960A>C (FANCL) ENSP00000512612.1:p.Ter320Cys
ENST00000696416.1:n.1035A>C (FANCL)
ENST00000696432.1:n.3486A>C (FANCL)
ENST00000696433.1:c.*80A>C (FANCL) ENSP00000512627.1:n.*80A>C
ENST00000696434.1:c.865A>C (FANCL) ENSP00000512628.1:p.Arg289=
ENST00000696435.1:c.*174A>C (FANCL) ENSP00000512629.1:n.*174A>C
ENST00000696436.1:n.981A>C (FANCL)
ENST00000696437.1:n.1444A>C (FANCL)
ENST00000696438.1:c.*860A>C (FANCL) ENSP00000512630.1:n.*860A>C
ENST00000696439.1:n.3076A>C (FANCL)
ENST00000696440.1:n.2063A>C (FANCL)
ENST00000696454.1:c.*378A>C (FANCL) ENSP00000512641.1:n.*378A>C
ENST00000696455.1:c.*80A>C (FANCL) ENSP00000512642.1:n.*80A>C
ENST00000696456.1:n.537A>C (FANCL)
ENST00000696457.1:c.*1798A>C (FANCL) ENSP00000512643.1:n.*1798A>C
ENST00000696458.1:c.888A>C (FANCL) ENSP00000512644.1:p.Ter296Cys
ENST00000696459.1:c.*462A>C (FANCL) ENSP00000512645.1:n.*462A>C
ENST00000696460.1:n.1524A>C (FANCL)
ENST00000696467.1:c.*523A>C (FANCL) ENSP00000512648.1:n.*523A>C
ENST00000696468.1:c.*519A>C (FANCL) ENSP00000512649.1:n.*519A>C
ENST00000696469.1:c.*174A>C (FANCL) ENSP00000512650.1:n.*174A>C
ENST00000696470.1:n.3195A>C (FANCL)
ENST00000696471.1:n.697A>C (FANCL)
ENST00000696472.1:c.*80A>C (FANCL) ENSP00000512651.1:n.*80A>C
ENST00000696473.1:c.*710A>C (FANCL) ENSP00000512652.1:n.*710A>C
ENST00000696474.1:n.903A>C (FANCL)
ENST00000696475.1:n.2535A>C (FANCL)
ENST00000696492.1:c.*692A>C (FANCL) ENSP00000512662.1:n.*692A>C
ENST00000696493.1:c.*875A>C (FANCL) ENSP00000512663.1:n.*875A>C
ENST00000696494.1:n.1059A>C (FANCL)
ENST00000696495.1:c.*773A>C (FANCL) ENSP00000512664.1:n.*773A>C
ENST00000696496.1:n.1566A>C (FANCL)
ENST00000696497.1:n.4324A>C (FANCL)
ENST00000696498.1:n.1786A>C (FANCL)
ENST00000696499.1:c.*464A>C (FANCL) ENSP00000512665.1:n.*464A>C
ENST00000696508.1:c.*582A>C (FANCL) ENSP00000512674.1:n.*582A>C
ENST00000696509.1:c.*904A>C (FANCL) ENSP00000512675.1:n.*904A>C
ENST00000696510.1:c.499A>C (FANCL) ENSP00000512676.1:p.Arg167=
ENST00000696527.1:c.*80A>C (FANCL) ENSP00000512690.1:n.*80A>C
ENST00000696528.1:c.*80A>C (FANCL) ENSP00000512691.1:n.*80A>C
ENST00000696529.1:n.890A>C (FANCL)
ENST00000696530.1:c.823A>C (FANCL) ENSP00000512692.1:p.Arg275=
ENST00000696531.1:c.*559A>C (FANCL) ENSP00000512693.1:n.*559A>C
ENST00000696532.1:n.2174A>C (FANCL)
ENST00000696542.1:n.965A>C (FANCL)
ENST00000696543.1:c.*80A>C (FANCL) ENSP00000512703.1:n.*80A>C
ENST00000696544.1:c.*80A>C (FANCL) ENSP00000512704.1:n.*80A>C
ENST00000696545.1:c.*695A>C (FANCL) ENSP00000512705.1:n.*695A>C
ENST00000696546.1:c.*806A>C (FANCL) ENSP00000512706.1:n.*806A>C
ENST00000696547.1:c.1015A>C (FANCL) ENSP00000512707.1:p.Arg339=
ENST00000696548.1:c.*1231A>C (FANCL) ENSP00000512708.1:n.*1231A>C
ENST00000696564.1:c.*80A>C (FANCL) ENSP00000512722.1:n.*80A>C
ENST00000696565.1:c.*80A>C (FANCL) ENSP00000512723.1:n.*80A>C
ENST00000696566.1:n.3615A>C (FANCL)
ENST00000696567.1:c.922A>C (FANCL) ENSP00000512724.1:p.Arg308=
ENST00000696568.1:n.453A>C (FANCL)
ENST00000696569.1:n.1136A>C (FANCL)
ENST00000696570.1:c.*349A>C (FANCL) ENSP00000512725.1:n.*349A>C
ENST00000696619.1:n.2583A>C (FANCL)
ENST00000696620.1:c.619A>C (FANCL) ENSP00000512759.1:p.Arg207=
ENST00000696621.1:c.*174A>C (FANCL) ENSP00000512760.1:n.*174A>C
ENST00000696622.1:n.2758A>C (FANCL)
ENST00000696623.1:n.993A>C (FANCL)
ENST00000696624.1:c.958A>C (FANCL) ENSP00000512761.1:p.Arg320=
ENST00000696625.1:c.*477A>C (FANCL) ENSP00000512762.1:n.*477A>C
ENST00000696634.1:c.740A>C (FANCL) ENSP00000512770.1:n.740A>C
ENST00000696635.1:c.1003A>C (FANCL) ENSP00000512771.1:p.Arg335=
ENST00000696636.1:n.3479A>C (FANCL)
ENST00000696637.1:n.8100A>C (FANCL)
ENST00000696638.1:n.1042A>C (FANCL)
ENST00000696639.1:n.3105A>C (FANCL)
ENST00000233741.9:c.1027A>C (FANCL) MANE Select ENSP00000233741.5:p.Arg343=
ENST00000233741.8:c.1027A>C (FANCL) ENSP00000233741.4:p.Arg343=
ENST00000402135.7:c.1042A>C (FANCL) ENSP00000385021.3:p.Arg348=
ENST00000403295.7:c.943A>C (FANCL) ENSP00000386097.3:p.Arg315=
ENST00000403676.5:c.676A>C (FANCL) ENSP00000384046.1:p.Arg226=
ENST00000449070.5:c.850A>C (FANCL) ENSP00000401280.1:p.Arg284=
NM_001114636.1:c.1042A>C , LRG_501t1:c.1042A>C (FANCL) NP_001108108.1:p.Arg348=
NM_018062.3:c.1027A>C , LRG_501t2:c.1027A>C (FANCL) NP_060532.2:p.Arg343=
XM_005264395.2:c.1027A>C (FANCL) XP_005264452.1:p.Arg343=
XM_005264397.3:c.676A>C (FANCL) XP_005264454.1:p.Arg226=
XM_011532939.1:c.1087A>C (FANCL) XP_011531241.1:p.Arg363=
XM_011532940.1:c.1072A>C (FANCL) XP_011531242.1:p.Arg358=
XM_011532941.1:c.1087A>C (FANCL) XP_011531243.1:p.Arg363=
XM_011532942.1:c.1042A>C (FANCL) XP_011531244.1:p.Arg348=
XM_011532943.1:c.1288A>C (FANCL) XP_011531245.1:p.Arg430=
XM_011532944.1:c.736A>C (FANCL) XP_011531246.1:p.Arg246=
XM_011532945.1:c.691A>C (FANCL) XP_011531247.1:p.Arg231=
XR_939692.1:n.1026A>C (FANCL)
NR_156742.1:n.816A>C (FANCL)
XM_005264395.4:c.1027A>C (FANCL) XP_005264452.1:p.Arg343=
XM_005264540.4:c.*480T>G (VRK2) XP_005264597.1:n.*480T>G
XM_006712090.4:c.*857T>G (VRK2) XP_006712153.1:n.*857T>G
XM_006712092.4:c.*480T>G (VRK2) XP_006712155.1:n.*480T>G
XM_006712093.4:c.*480T>G (VRK2) XP_006712156.1:n.*480T>G
XM_011532939.3:c.1087A>C (FANCL) XP_011531241.1:p.Arg363=
XM_011532940.3:c.1072A>C (FANCL) XP_011531242.1:p.Arg358=
XM_011532941.2:c.1087A>C (FANCL) XP_011531243.1:p.Arg363=
XM_011532942.3:c.1042A>C (FANCL) XP_011531244.1:p.Arg348=
XM_011532944.2:c.736A>C (FANCL) XP_011531246.1:p.Arg246=
XM_011532945.2:c.691A>C (FANCL) XP_011531247.1:p.Arg231=
XM_011533092.3:c.*480T>G (VRK2) XP_011531394.1:n.*480T>G
XM_017004414.2:c.1072A>C (FANCL) XP_016859903.1:p.Arg358=
XM_017004416.1:c.676A>C (FANCL) XP_016859905.1:p.Arg226=
XM_017004858.2:c.*857T>G (VRK2) XP_016860347.1:n.*857T>G
XM_017004859.2:c.*480T>G (VRK2) XP_016860348.1:n.*480T>G
XM_017004860.2:c.*480T>G (VRK2) XP_016860349.1:n.*480T>G
XM_017004861.2:c.*480T>G (VRK2) XP_016860350.1:n.*480T>G
XM_017004862.2:c.*480T>G (VRK2) XP_016860351.1:n.*480T>G
XM_017004863.2:c.*480T>G (VRK2) XP_016860352.1:n.*480T>G
XM_017004864.2:c.*857T>G (VRK2) XP_016860353.1:n.*857T>G
XM_017004865.1:c.*865T>G (VRK2) XP_016860354.1:n.*865T>G
XM_017004866.1:c.*865T>G (VRK2) XP_016860355.1:n.*865T>G
XR_001738802.2:n.973A>C (FANCL)
XR_001738803.2:n.958A>C (FANCL)
XR_002959309.1:n.1669A>C (FANCL)
XR_939692.2:n.1018A>C (FANCL)
NM_001374615.1:c.1072A>C (FANCL) NP_001361544.1:p.Arg358=
NM_018062.4:c.1027A>C (FANCL) MANE Select NP_060532.2:p.Arg343=
NR_164659.1:n.908A>C (FANCL)