Canonical Allele Identifier: CA346931078
Gene: FANCL HGNC NCBI
VRK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.58387273G>C (hg19) chr2:g.58160138G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160138G>C , CM000664.2:g.58160138G>C GRCh38
NC_000002.11:g.58387273G>C , CM000664.1:g.58387273G>C GRCh37
NC_000002.10:g.58240777G>C NCBI36
NG_007418.1:g.86242C>G , LRG_501:g.86242C>G
NG_029717.2:g.257398G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1077C>G (FANCL) ENSP00000385021.3:p.Ile359Met
ENST00000403295.8:c.978C>G (FANCL) ENSP00000386097.3:p.Ile326Met
ENST00000403676.6:c.*625C>G (FANCL) ENSP00000384046.2:n.*625C>G
ENST00000417361.2:c.*640C>G (FANCL) ENSP00000389448.2:n.*640C>G
ENST00000427708.7:c.1107C>G (FANCL) ENSP00000400969.3:p.Ile369Met
ENST00000446381.6:c.618C>G (FANCL) ENSP00000390991.2:p.Ile206Met
ENST00000449070.6:c.885C>G (FANCL) ENSP00000401280.2:p.Ile295Met
ENST00000470506.2:n.1576C>G (FANCL)
ENST00000696305.1:c.1005C>G (FANCL) ENSP00000512543.1:p.Ile335Met
ENST00000696306.1:c.*952C>G (FANCL) ENSP00000512544.1:n.*952C>G
ENST00000696307.1:c.1047C>G (FANCL) ENSP00000512545.1:p.Ile349Met
ENST00000696314.1:c.*115C>G (FANCL) ENSP00000512552.1:n.*115C>G
ENST00000696315.1:c.*625C>G (FANCL) ENSP00000512553.1:n.*625C>G
ENST00000696316.1:c.945C>G (FANCL) ENSP00000512554.1:p.Ile315Met
ENST00000696317.1:c.*35C>G (FANCL) ENSP00000512555.1:n.*35C>G
ENST00000696318.1:c.*115C>G (FANCL) ENSP00000512556.1:n.*115C>G
ENST00000696319.1:c.1020C>G (FANCL) ENSP00000512557.1:p.Ile340Met
ENST00000696320.1:n.2741C>G (FANCL)
ENST00000696324.1:c.*512C>G (FANCL) ENSP00000512561.1:n.*512C>G
ENST00000696325.1:n.4145C>G (FANCL)
ENST00000696326.1:c.1122C>G (FANCL) ENSP00000512562.1:p.Ile374Met
ENST00000696338.1:n.1176C>G (FANCL)
ENST00000696339.1:n.2634C>G (FANCL)
ENST00000696340.1:n.3288C>G (FANCL)
ENST00000696341.1:n.1570C>G (FANCL)
ENST00000696342.1:c.*2292C>G (FANCL) ENSP00000512569.1:n.*2292C>G
ENST00000696343.1:n.2921C>G (FANCL)
ENST00000696344.1:c.*776C>G (FANCL) ENSP00000512570.1:n.*776C>G
ENST00000696358.1:n.3735C>G (FANCL)
ENST00000696359.1:n.3412C>G (FANCL)
ENST00000696360.1:n.1847C>G (FANCL)
ENST00000696361.1:c.*1065C>G (FANCL) ENSP00000512579.1:n.*1065C>G
ENST00000696362.1:c.*512C>G (FANCL) ENSP00000512580.1:n.*512C>G
ENST00000696363.1:n.2839C>G (FANCL)
ENST00000696364.1:n.1455C>G (FANCL)
ENST00000696371.1:c.1053C>G (FANCL) ENSP00000512586.1:p.Ile351Met
ENST00000696372.1:n.2151C>G (FANCL)
ENST00000696373.1:c.*2292C>G (FANCL) ENSP00000512587.1:n.*2292C>G
ENST00000696374.1:c.*430C>G (FANCL) ENSP00000512588.1:n.*430C>G
ENST00000696375.1:n.7995C>G (FANCL)
ENST00000696376.1:n.6848C>G (FANCL)
ENST00000696378.1:c.*1080C>G (FANCL) ENSP00000512589.1:n.*1080C>G
ENST00000696394.1:n.4564C>G (FANCL)
ENST00000696395.1:n.4503C>G (FANCL)
ENST00000696396.1:n.2216C>G (FANCL)
ENST00000696397.1:n.3187C>G (FANCL)
ENST00000696398.1:c.*209C>G (FANCL) ENSP00000512604.1:n.*209C>G
ENST00000696399.1:n.2336C>G (FANCL)
ENST00000696400.1:c.*826C>G (FANCL) ENSP00000512605.1:n.*826C>G
ENST00000696409.1:c.*579C>G (FANCL) ENSP00000512610.1:n.*579C>G
ENST00000696410.1:c.*543C>G (FANCL) ENSP00000512611.1:n.*543C>G
ENST00000696411.1:n.767C>G (FANCL)
ENST00000696412.1:n.1561C>G (FANCL)
ENST00000696413.1:n.1064C>G (FANCL)
ENST00000696414.1:n.2108C>G (FANCL)
ENST00000696415.1:c.*35C>G (FANCL) ENSP00000512612.1:n.*35C>G
ENST00000696416.1:n.1070C>G (FANCL)
ENST00000696432.1:n.3521C>G (FANCL)
ENST00000696433.1:c.*115C>G (FANCL) ENSP00000512627.1:n.*115C>G
ENST00000696434.1:c.900C>G (FANCL) ENSP00000512628.1:p.Ile300Met
ENST00000696435.1:c.*209C>G (FANCL) ENSP00000512629.1:n.*209C>G
ENST00000696436.1:n.1016C>G (FANCL)
ENST00000696437.1:n.1479C>G (FANCL)
ENST00000696438.1:c.*895C>G (FANCL) ENSP00000512630.1:n.*895C>G
ENST00000696439.1:n.3111C>G (FANCL)
ENST00000696440.1:n.2098C>G (FANCL)
ENST00000696454.1:c.*413C>G (FANCL) ENSP00000512641.1:n.*413C>G
ENST00000696455.1:c.*115C>G (FANCL) ENSP00000512642.1:n.*115C>G
ENST00000696456.1:n.572C>G (FANCL)
ENST00000696457.1:c.*1833C>G (FANCL) ENSP00000512643.1:n.*1833C>G
ENST00000696458.1:c.*35C>G (FANCL) ENSP00000512644.1:n.*35C>G
ENST00000696459.1:c.*497C>G (FANCL) ENSP00000512645.1:n.*497C>G
ENST00000696460.1:n.1559C>G (FANCL)
ENST00000696467.1:c.*558C>G (FANCL) ENSP00000512648.1:n.*558C>G
ENST00000696468.1:c.*554C>G (FANCL) ENSP00000512649.1:n.*554C>G
ENST00000696469.1:c.*209C>G (FANCL) ENSP00000512650.1:n.*209C>G
ENST00000696470.1:n.3230C>G (FANCL)
ENST00000696471.1:n.732C>G (FANCL)
ENST00000696472.1:c.*115C>G (FANCL) ENSP00000512651.1:n.*115C>G
ENST00000696473.1:c.*745C>G (FANCL) ENSP00000512652.1:n.*745C>G
ENST00000696474.1:n.938C>G (FANCL)
ENST00000696475.1:n.2570C>G (FANCL)
ENST00000696492.1:c.*727C>G (FANCL) ENSP00000512662.1:n.*727C>G
ENST00000696493.1:c.*910C>G (FANCL) ENSP00000512663.1:n.*910C>G
ENST00000696494.1:n.1094C>G (FANCL)
ENST00000696495.1:c.*808C>G (FANCL) ENSP00000512664.1:n.*808C>G
ENST00000696496.1:n.1601C>G (FANCL)
ENST00000696497.1:n.4359C>G (FANCL)
ENST00000696498.1:n.1821C>G (FANCL)
ENST00000696499.1:c.*499C>G (FANCL) ENSP00000512665.1:n.*499C>G
ENST00000696508.1:c.*617C>G (FANCL) ENSP00000512674.1:n.*617C>G
ENST00000696509.1:c.*939C>G (FANCL) ENSP00000512675.1:n.*939C>G
ENST00000696510.1:c.534C>G (FANCL) ENSP00000512676.1:p.Ile178Met
ENST00000696527.1:c.*115C>G (FANCL) ENSP00000512690.1:n.*115C>G
ENST00000696528.1:c.*115C>G (FANCL) ENSP00000512691.1:n.*115C>G
ENST00000696529.1:n.925C>G (FANCL)
ENST00000696530.1:c.858C>G (FANCL) ENSP00000512692.1:p.Ile286Met
ENST00000696531.1:c.*594C>G (FANCL) ENSP00000512693.1:n.*594C>G
ENST00000696532.1:n.2209C>G (FANCL)
ENST00000696542.1:n.1000C>G (FANCL)
ENST00000696543.1:c.*115C>G (FANCL) ENSP00000512703.1:n.*115C>G
ENST00000696544.1:c.*115C>G (FANCL) ENSP00000512704.1:n.*115C>G
ENST00000696545.1:c.*730C>G (FANCL) ENSP00000512705.1:n.*730C>G
ENST00000696546.1:c.*841C>G (FANCL) ENSP00000512706.1:n.*841C>G
ENST00000696547.1:c.1050C>G (FANCL) ENSP00000512707.1:p.Ile350Met
ENST00000696548.1:c.*1266C>G (FANCL) ENSP00000512708.1:n.*1266C>G
ENST00000696564.1:c.*115C>G (FANCL) ENSP00000512722.1:n.*115C>G
ENST00000696565.1:c.*115C>G (FANCL) ENSP00000512723.1:n.*115C>G
ENST00000696566.1:n.3650C>G (FANCL)
ENST00000696567.1:c.957C>G (FANCL) ENSP00000512724.1:p.Ile319Met
ENST00000696568.1:n.488C>G (FANCL)
ENST00000696569.1:n.1171C>G (FANCL)
ENST00000696570.1:c.*384C>G (FANCL) ENSP00000512725.1:n.*384C>G
ENST00000696619.1:n.2618C>G (FANCL)
ENST00000696620.1:c.654C>G (FANCL) ENSP00000512759.1:p.Ile218Met
ENST00000696621.1:c.*209C>G (FANCL) ENSP00000512760.1:n.*209C>G
ENST00000696622.1:n.2793C>G (FANCL)
ENST00000696623.1:n.1028C>G (FANCL)
ENST00000696624.1:c.993C>G (FANCL) ENSP00000512761.1:p.Ile331Met
ENST00000696625.1:c.*512C>G (FANCL) ENSP00000512762.1:n.*512C>G
ENST00000696634.1:c.775C>G (FANCL) ENSP00000512770.1:n.775C>G
ENST00000696635.1:c.1038C>G (FANCL) ENSP00000512771.1:p.Ile346Met
ENST00000696636.1:n.3514C>G (FANCL)
ENST00000696637.1:n.8135C>G (FANCL)
ENST00000696638.1:n.1077C>G (FANCL)
ENST00000696639.1:n.3140C>G (FANCL)
ENST00000233741.9:c.1062C>G (FANCL) MANE Select ENSP00000233741.5:p.Ile354Met
ENST00000233741.8:c.1062C>G (FANCL) ENSP00000233741.4:p.Ile354Met
ENST00000402135.7:c.1077C>G (FANCL) ENSP00000385021.3:p.Ile359Met
ENST00000403295.7:c.978C>G (FANCL) ENSP00000386097.3:p.Ile326Met
ENST00000403676.5:c.711C>G (FANCL) ENSP00000384046.1:p.Ile237Met
ENST00000449070.5:c.885C>G (FANCL) ENSP00000401280.1:p.Ile295Met
NM_001114636.1:c.1077C>G , LRG_501t1:c.1077C>G (FANCL) NP_001108108.1:p.Ile359Met
NM_018062.3:c.1062C>G , LRG_501t2:c.1062C>G (FANCL) NP_060532.2:p.Ile354Met
XM_005264395.2:c.1062C>G (FANCL) XP_005264452.1:p.Ile354Met
XM_005264397.3:c.711C>G (FANCL) XP_005264454.1:p.Ile237Met
XM_011532939.1:c.1122C>G (FANCL) XP_011531241.1:p.Ile374Met
XM_011532940.1:c.1107C>G (FANCL) XP_011531242.1:p.Ile369Met
XM_011532941.1:c.1122C>G (FANCL) XP_011531243.1:p.Ile374Met
XM_011532942.1:c.1077C>G (FANCL) XP_011531244.1:p.Ile359Met
XM_011532943.1:c.1323C>G (FANCL) XP_011531245.1:p.Ile441Met
XM_011532944.1:c.771C>G (FANCL) XP_011531246.1:p.Ile257Met
XM_011532945.1:c.726C>G (FANCL) XP_011531247.1:p.Ile242Met
XR_939692.1:n.1061C>G (FANCL)
NR_156742.1:n.851C>G (FANCL)
XM_005264395.4:c.1062C>G (FANCL) XP_005264452.1:p.Ile354Met
XM_005264540.4:c.*445G>C (VRK2) XP_005264597.1:n.*445G>C
XM_006712090.4:c.*822G>C (VRK2) XP_006712153.1:n.*822G>C
XM_006712092.4:c.*445G>C (VRK2) XP_006712155.1:n.*445G>C
XM_006712093.4:c.*445G>C (VRK2) XP_006712156.1:n.*445G>C
XM_011532939.3:c.1122C>G (FANCL) XP_011531241.1:p.Ile374Met
XM_011532940.3:c.1107C>G (FANCL) XP_011531242.1:p.Ile369Met
XM_011532941.2:c.1122C>G (FANCL) XP_011531243.1:p.Ile374Met
XM_011532942.3:c.1077C>G (FANCL) XP_011531244.1:p.Ile359Met
XM_011532944.2:c.771C>G (FANCL) XP_011531246.1:p.Ile257Met
XM_011532945.2:c.726C>G (FANCL) XP_011531247.1:p.Ile242Met
XM_011533092.3:c.*445G>C (VRK2) XP_011531394.1:n.*445G>C
XM_017004414.2:c.1107C>G (FANCL) XP_016859903.1:p.Ile369Met
XM_017004416.1:c.711C>G (FANCL) XP_016859905.1:p.Ile237Met
XM_017004858.2:c.*822G>C (VRK2) XP_016860347.1:n.*822G>C
XM_017004859.2:c.*445G>C (VRK2) XP_016860348.1:n.*445G>C
XM_017004860.2:c.*445G>C (VRK2) XP_016860349.1:n.*445G>C
XM_017004861.2:c.*445G>C (VRK2) XP_016860350.1:n.*445G>C
XM_017004862.2:c.*445G>C (VRK2) XP_016860351.1:n.*445G>C
XM_017004863.2:c.*445G>C (VRK2) XP_016860352.1:n.*445G>C
XM_017004864.2:c.*822G>C (VRK2) XP_016860353.1:n.*822G>C
XM_017004865.1:c.*830G>C (VRK2) XP_016860354.1:n.*830G>C
XM_017004866.1:c.*830G>C (VRK2) XP_016860355.1:n.*830G>C
XR_001738802.2:n.1008C>G (FANCL)
XR_001738803.2:n.993C>G (FANCL)
XR_002959309.1:n.1704C>G (FANCL)
XR_939692.2:n.1053C>G (FANCL)
NM_001374615.1:c.1107C>G (FANCL) NP_001361544.1:p.Ile369Met
NM_018062.4:c.1062C>G (FANCL) MANE Select NP_060532.2:p.Ile354Met
NR_164659.1:n.943C>G (FANCL)
Search 100 bp 5'
Search 100 bp 3'