Canonical Allele Identifier: CA346930944

Gene: FANCL VRK2

Linked Data

• MyVariant Identifiers: chr2:g.58387253T>G (hg19) ; chr2:g.58160118T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58160118T>G , CM000664.2:g.58160118T>G	GRCh38
NC_000002.11:g.58387253T>G , CM000664.1:g.58387253T>G	GRCh37
NC_000002.10:g.58240757T>G	NCBI36
NG_007418.1:g.86262A>C , LRG_501:g.86262A>C
NG_029717.2:g.257378T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.1097A>C (FANCL)	ENSP00000385021.3:p.Tyr366Ser
ENST00000403295.8:c.998A>C (FANCL)	ENSP00000386097.3:p.Tyr333Ser
ENST00000403676.6:c.*645A>C (FANCL)	ENSP00000384046.2:n.*645A>C
ENST00000417361.2:c.*660A>C (FANCL)	ENSP00000389448.2:n.*660A>C
ENST00000427708.7:c.1127A>C (FANCL)	ENSP00000400969.3:p.Tyr376Ser
ENST00000446381.6:c.638A>C (FANCL)	ENSP00000390991.2:p.Tyr213Ser
ENST00000449070.6:c.905A>C (FANCL)	ENSP00000401280.2:p.Tyr302Ser
ENST00000470506.2:n.1596A>C (FANCL)
ENST00000696305.1:c.1025A>C (FANCL)	ENSP00000512543.1:p.Tyr342Ser
ENST00000696306.1:c.*972A>C (FANCL)	ENSP00000512544.1:n.*972A>C
ENST00000696307.1:c.1067A>C (FANCL)	ENSP00000512545.1:p.Tyr356Ser
ENST00000696314.1:c.*135A>C (FANCL)	ENSP00000512552.1:n.*135A>C
ENST00000696315.1:c.*645A>C (FANCL)	ENSP00000512553.1:n.*645A>C
ENST00000696316.1:c.965A>C (FANCL)	ENSP00000512554.1:p.Tyr322Ser
ENST00000696317.1:c.*55A>C (FANCL)	ENSP00000512555.1:n.*55A>C
ENST00000696318.1:c.*135A>C (FANCL)	ENSP00000512556.1:n.*135A>C
ENST00000696319.1:c.1040A>C (FANCL)	ENSP00000512557.1:p.Tyr347Ser
ENST00000696320.1:n.2761A>C (FANCL)
ENST00000696324.1:c.*532A>C (FANCL)	ENSP00000512561.1:n.*532A>C
ENST00000696325.1:n.4165A>C (FANCL)
ENST00000696326.1:c.1142A>C (FANCL)	ENSP00000512562.1:p.Tyr381Ser
ENST00000696338.1:n.1196A>C (FANCL)
ENST00000696339.1:n.2654A>C (FANCL)
ENST00000696340.1:n.3308A>C (FANCL)
ENST00000696341.1:n.1590A>C (FANCL)
ENST00000696342.1:c.*2312A>C (FANCL)	ENSP00000512569.1:n.*2312A>C
ENST00000696343.1:n.2941A>C (FANCL)
ENST00000696344.1:c.*796A>C (FANCL)	ENSP00000512570.1:n.*796A>C
ENST00000696358.1:n.3755A>C (FANCL)
ENST00000696359.1:n.3432A>C (FANCL)
ENST00000696360.1:n.1867A>C (FANCL)
ENST00000696361.1:c.*1085A>C (FANCL)	ENSP00000512579.1:n.*1085A>C
ENST00000696362.1:c.*532A>C (FANCL)	ENSP00000512580.1:n.*532A>C
ENST00000696363.1:n.2859A>C (FANCL)
ENST00000696364.1:n.1475A>C (FANCL)
ENST00000696371.1:c.1073A>C (FANCL)	ENSP00000512586.1:p.Tyr358Ser
ENST00000696372.1:n.2171A>C (FANCL)
ENST00000696373.1:c.*2312A>C (FANCL)	ENSP00000512587.1:n.*2312A>C
ENST00000696374.1:c.*450A>C (FANCL)	ENSP00000512588.1:n.*450A>C
ENST00000696375.1:n.8015A>C (FANCL)
ENST00000696376.1:n.6868A>C (FANCL)
ENST00000696378.1:c.*1100A>C (FANCL)	ENSP00000512589.1:n.*1100A>C
ENST00000696394.1:n.4584A>C (FANCL)
ENST00000696395.1:n.4523A>C (FANCL)
ENST00000696396.1:n.2236A>C (FANCL)
ENST00000696397.1:n.3207A>C (FANCL)
ENST00000696398.1:c.*229A>C (FANCL)	ENSP00000512604.1:n.*229A>C
ENST00000696399.1:n.2356A>C (FANCL)
ENST00000696400.1:c.*846A>C (FANCL)	ENSP00000512605.1:n.*846A>C
ENST00000696409.1:c.*599A>C (FANCL)	ENSP00000512610.1:n.*599A>C
ENST00000696410.1:c.*563A>C (FANCL)	ENSP00000512611.1:n.*563A>C
ENST00000696411.1:n.787A>C (FANCL)
ENST00000696412.1:n.1581A>C (FANCL)
ENST00000696413.1:n.1084A>C (FANCL)
ENST00000696414.1:n.2128A>C (FANCL)
ENST00000696415.1:c.*55A>C (FANCL)	ENSP00000512612.1:n.*55A>C
ENST00000696416.1:n.1090A>C (FANCL)
ENST00000696432.1:n.3541A>C (FANCL)
ENST00000696433.1:c.*135A>C (FANCL)	ENSP00000512627.1:n.*135A>C
ENST00000696434.1:c.920A>C (FANCL)	ENSP00000512628.1:p.Tyr307Ser
ENST00000696435.1:c.*229A>C (FANCL)	ENSP00000512629.1:n.*229A>C
ENST00000696436.1:n.1036A>C (FANCL)
ENST00000696437.1:n.1499A>C (FANCL)
ENST00000696438.1:c.*915A>C (FANCL)	ENSP00000512630.1:n.*915A>C
ENST00000696439.1:n.3131A>C (FANCL)
ENST00000696440.1:n.2118A>C (FANCL)
ENST00000696454.1:c.*433A>C (FANCL)	ENSP00000512641.1:n.*433A>C
ENST00000696455.1:c.*135A>C (FANCL)	ENSP00000512642.1:n.*135A>C
ENST00000696456.1:n.592A>C (FANCL)
ENST00000696457.1:c.*1853A>C (FANCL)	ENSP00000512643.1:n.*1853A>C
ENST00000696458.1:c.*55A>C (FANCL)	ENSP00000512644.1:n.*55A>C
ENST00000696459.1:c.*517A>C (FANCL)	ENSP00000512645.1:n.*517A>C
ENST00000696460.1:n.1579A>C (FANCL)
ENST00000696467.1:c.*578A>C (FANCL)	ENSP00000512648.1:n.*578A>C
ENST00000696468.1:c.*574A>C (FANCL)	ENSP00000512649.1:n.*574A>C
ENST00000696469.1:c.*229A>C (FANCL)	ENSP00000512650.1:n.*229A>C
ENST00000696470.1:n.3250A>C (FANCL)
ENST00000696471.1:n.752A>C (FANCL)
ENST00000696472.1:c.*135A>C (FANCL)	ENSP00000512651.1:n.*135A>C
ENST00000696473.1:c.*765A>C (FANCL)	ENSP00000512652.1:n.*765A>C
ENST00000696474.1:n.958A>C (FANCL)
ENST00000696475.1:n.2590A>C (FANCL)
ENST00000696492.1:c.*747A>C (FANCL)	ENSP00000512662.1:n.*747A>C
ENST00000696493.1:c.*930A>C (FANCL)	ENSP00000512663.1:n.*930A>C
ENST00000696494.1:n.1114A>C (FANCL)
ENST00000696495.1:c.*828A>C (FANCL)	ENSP00000512664.1:n.*828A>C
ENST00000696496.1:n.1621A>C (FANCL)
ENST00000696497.1:n.4379A>C (FANCL)
ENST00000696498.1:n.1841A>C (FANCL)
ENST00000696499.1:c.*519A>C (FANCL)	ENSP00000512665.1:n.*519A>C
ENST00000696508.1:c.*637A>C (FANCL)	ENSP00000512674.1:n.*637A>C
ENST00000696509.1:c.*959A>C (FANCL)	ENSP00000512675.1:n.*959A>C
ENST00000696510.1:c.554A>C (FANCL)	ENSP00000512676.1:p.Tyr185Ser
ENST00000696527.1:c.*135A>C (FANCL)	ENSP00000512690.1:n.*135A>C
ENST00000696528.1:c.*135A>C (FANCL)	ENSP00000512691.1:n.*135A>C
ENST00000696529.1:n.945A>C (FANCL)
ENST00000696530.1:c.878A>C (FANCL)	ENSP00000512692.1:p.Tyr293Ser
ENST00000696531.1:c.*614A>C (FANCL)	ENSP00000512693.1:n.*614A>C
ENST00000696532.1:n.2229A>C (FANCL)
ENST00000696542.1:n.1020A>C (FANCL)
ENST00000696543.1:c.*135A>C (FANCL)	ENSP00000512703.1:n.*135A>C
ENST00000696544.1:c.*135A>C (FANCL)	ENSP00000512704.1:n.*135A>C
ENST00000696545.1:c.*750A>C (FANCL)	ENSP00000512705.1:n.*750A>C
ENST00000696546.1:c.*861A>C (FANCL)	ENSP00000512706.1:n.*861A>C
ENST00000696547.1:c.1070A>C (FANCL)	ENSP00000512707.1:p.Tyr357Ser
ENST00000696548.1:c.*1286A>C (FANCL)	ENSP00000512708.1:n.*1286A>C
ENST00000696564.1:c.*135A>C (FANCL)	ENSP00000512722.1:n.*135A>C
ENST00000696565.1:c.*135A>C (FANCL)	ENSP00000512723.1:n.*135A>C
ENST00000696566.1:n.3670A>C (FANCL)
ENST00000696567.1:c.977A>C (FANCL)	ENSP00000512724.1:p.Tyr326Ser
ENST00000696568.1:n.508A>C (FANCL)
ENST00000696569.1:n.1191A>C (FANCL)
ENST00000696570.1:c.*404A>C (FANCL)	ENSP00000512725.1:n.*404A>C
ENST00000696619.1:n.2638A>C (FANCL)
ENST00000696620.1:c.674A>C (FANCL)	ENSP00000512759.1:p.Tyr225Ser
ENST00000696621.1:c.*229A>C (FANCL)	ENSP00000512760.1:n.*229A>C
ENST00000696622.1:n.2813A>C (FANCL)
ENST00000696623.1:n.1048A>C (FANCL)
ENST00000696624.1:c.1013A>C (FANCL)	ENSP00000512761.1:p.Tyr338Ser
ENST00000696625.1:c.*532A>C (FANCL)	ENSP00000512762.1:n.*532A>C
ENST00000696634.1:c.795A>C (FANCL)	ENSP00000512770.1:n.795A>C
ENST00000696635.1:c.1058A>C (FANCL)	ENSP00000512771.1:p.Tyr353Ser
ENST00000696636.1:n.3534A>C (FANCL)
ENST00000696637.1:n.8155A>C (FANCL)
ENST00000696638.1:n.1097A>C (FANCL)
ENST00000696639.1:n.3160A>C (FANCL)
ENST00000233741.9:c.1082A>C (FANCL) MANE Select	ENSP00000233741.5:p.Tyr361Ser
ENST00000233741.8:c.1082A>C (FANCL)	ENSP00000233741.4:p.Tyr361Ser
ENST00000402135.7:c.1097A>C (FANCL)	ENSP00000385021.3:p.Tyr366Ser
ENST00000403295.7:c.998A>C (FANCL)	ENSP00000386097.3:p.Tyr333Ser
ENST00000403676.5:c.731A>C (FANCL)	ENSP00000384046.1:p.Tyr244Ser
ENST00000449070.5:c.905A>C (FANCL)
NM_001114636.1:c.1097A>C , LRG_501t1:c.1097A>C (FANCL)	NP_001108108.1:p.Tyr366Ser
NM_018062.3:c.1082A>C , LRG_501t2:c.1082A>C (FANCL)	NP_060532.2:p.Tyr361Ser
XM_005264395.2:c.1082A>C (FANCL)	XP_005264452.1:p.Tyr361Ser
XM_005264397.3:c.731A>C (FANCL)	XP_005264454.1:p.Tyr244Ser
XM_011532939.1:c.1142A>C (FANCL)	XP_011531241.1:p.Tyr381Ser
XM_011532940.1:c.1127A>C (FANCL)	XP_011531242.1:p.Tyr376Ser
XM_011532941.1:c.1142A>C (FANCL)	XP_011531243.1:p.Tyr381Ser
XM_011532942.1:c.1097A>C (FANCL)	XP_011531244.1:p.Tyr366Ser
XM_011532943.1:c.1343A>C (FANCL)	XP_011531245.1:p.Tyr448Ser
XM_011532944.1:c.791A>C (FANCL)	XP_011531246.1:p.Tyr264Ser
XM_011532945.1:c.746A>C (FANCL)	XP_011531247.1:p.Tyr249Ser
XR_939692.1:n.1081A>C (FANCL)
NR_156742.1:n.871A>C (FANCL)
XM_005264395.4:c.1082A>C (FANCL)	XP_005264452.1:p.Tyr361Ser
XM_005264540.4:c.*425T>G (VRK2)	XP_005264597.1:n.*425T>G
XM_006712090.4:c.*802T>G (VRK2)	XP_006712153.1:n.*802T>G
XM_006712092.4:c.*425T>G (VRK2)	XP_006712155.1:n.*425T>G
XM_006712093.4:c.*425T>G (VRK2)	XP_006712156.1:n.*425T>G
XM_011532939.3:c.1142A>C (FANCL)	XP_011531241.1:p.Tyr381Ser
XM_011532940.3:c.1127A>C (FANCL)	XP_011531242.1:p.Tyr376Ser
XM_011532941.2:c.1142A>C (FANCL)	XP_011531243.1:p.Tyr381Ser
XM_011532942.3:c.1097A>C (FANCL)	XP_011531244.1:p.Tyr366Ser
XM_011532944.2:c.791A>C (FANCL)	XP_011531246.1:p.Tyr264Ser
XM_011532945.2:c.746A>C (FANCL)	XP_011531247.1:p.Tyr249Ser
XM_011533092.3:c.*425T>G (VRK2)	XP_011531394.1:n.*425T>G
XM_017004414.2:c.1127A>C (FANCL)	XP_016859903.1:p.Tyr376Ser
XM_017004416.1:c.731A>C (FANCL)	XP_016859905.1:p.Tyr244Ser
XM_017004858.2:c.*802T>G (VRK2)	XP_016860347.1:n.*802T>G
XM_017004859.2:c.*425T>G (VRK2)	XP_016860348.1:n.*425T>G
XM_017004860.2:c.*425T>G (VRK2)	XP_016860349.1:n.*425T>G
XM_017004861.2:c.*425T>G (VRK2)	XP_016860350.1:n.*425T>G
XM_017004862.2:c.*425T>G (VRK2)	XP_016860351.1:n.*425T>G
XM_017004863.2:c.*425T>G (VRK2)	XP_016860352.1:n.*425T>G
XM_017004864.2:c.*802T>G (VRK2)	XP_016860353.1:n.*802T>G
XM_017004865.1:c.*810T>G (VRK2)	XP_016860354.1:n.*810T>G
XM_017004866.1:c.*810T>G (VRK2)	XP_016860355.1:n.*810T>G
XR_001738802.2:n.1028A>C (FANCL)
XR_001738803.2:n.1013A>C (FANCL)
XR_002959309.1:n.1724A>C (FANCL)
XR_939692.2:n.1073A>C (FANCL)
NM_001374615.1:c.1127A>C (FANCL)	NP_001361544.1:p.Tyr376Ser
NM_018062.4:c.1082A>C (FANCL) MANE Select	NP_060532.2:p.Tyr361Ser
NR_164659.1:n.963A>C (FANCL)