Canonical Allele Identifier: CA346931063

Gene: FANCL VRK2

Linked Data

• MyVariant Identifiers: chr2:g.58387271A>G (hg19) ; chr2:g.58160136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58160136A>G , CM000664.2:g.58160136A>G	GRCh38
NC_000002.11:g.58387271A>G , CM000664.1:g.58387271A>G	GRCh37
NC_000002.10:g.58240775A>G	NCBI36
NG_007418.1:g.86244T>C , LRG_501:g.86244T>C
NG_029717.2:g.257396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.1079T>C (FANCL)	ENSP00000385021.3:p.Ile360Thr
ENST00000403295.8:c.980T>C (FANCL)	ENSP00000386097.3:p.Ile327Thr
ENST00000403676.6:c.*627T>C (FANCL)	ENSP00000384046.2:n.*627T>C
ENST00000417361.2:c.*642T>C (FANCL)	ENSP00000389448.2:n.*642T>C
ENST00000427708.7:c.1109T>C (FANCL)	ENSP00000400969.3:p.Ile370Thr
ENST00000446381.6:c.620T>C (FANCL)	ENSP00000390991.2:p.Ile207Thr
ENST00000449070.6:c.887T>C (FANCL)	ENSP00000401280.2:p.Ile296Thr
ENST00000470506.2:n.1578T>C (FANCL)
ENST00000696305.1:c.1007T>C (FANCL)	ENSP00000512543.1:p.Ile336Thr
ENST00000696306.1:c.*954T>C (FANCL)	ENSP00000512544.1:n.*954T>C
ENST00000696307.1:c.1049T>C (FANCL)	ENSP00000512545.1:p.Ile350Thr
ENST00000696314.1:c.*117T>C (FANCL)	ENSP00000512552.1:n.*117T>C
ENST00000696315.1:c.*627T>C (FANCL)	ENSP00000512553.1:n.*627T>C
ENST00000696316.1:c.947T>C (FANCL)	ENSP00000512554.1:p.Ile316Thr
ENST00000696317.1:c.*37T>C (FANCL)	ENSP00000512555.1:n.*37T>C
ENST00000696318.1:c.*117T>C (FANCL)	ENSP00000512556.1:n.*117T>C
ENST00000696319.1:c.1022T>C (FANCL)	ENSP00000512557.1:p.Ile341Thr
ENST00000696320.1:n.2743T>C (FANCL)
ENST00000696324.1:c.*514T>C (FANCL)	ENSP00000512561.1:n.*514T>C
ENST00000696325.1:n.4147T>C (FANCL)
ENST00000696326.1:c.1124T>C (FANCL)	ENSP00000512562.1:p.Ile375Thr
ENST00000696338.1:n.1178T>C (FANCL)
ENST00000696339.1:n.2636T>C (FANCL)
ENST00000696340.1:n.3290T>C (FANCL)
ENST00000696341.1:n.1572T>C (FANCL)
ENST00000696342.1:c.*2294T>C (FANCL)	ENSP00000512569.1:n.*2294T>C
ENST00000696343.1:n.2923T>C (FANCL)
ENST00000696344.1:c.*778T>C (FANCL)	ENSP00000512570.1:n.*778T>C
ENST00000696358.1:n.3737T>C (FANCL)
ENST00000696359.1:n.3414T>C (FANCL)
ENST00000696360.1:n.1849T>C (FANCL)
ENST00000696361.1:c.*1067T>C (FANCL)	ENSP00000512579.1:n.*1067T>C
ENST00000696362.1:c.*514T>C (FANCL)	ENSP00000512580.1:n.*514T>C
ENST00000696363.1:n.2841T>C (FANCL)
ENST00000696364.1:n.1457T>C (FANCL)
ENST00000696371.1:c.1055T>C (FANCL)	ENSP00000512586.1:p.Ile352Thr
ENST00000696372.1:n.2153T>C (FANCL)
ENST00000696373.1:c.*2294T>C (FANCL)	ENSP00000512587.1:n.*2294T>C
ENST00000696374.1:c.*432T>C (FANCL)	ENSP00000512588.1:n.*432T>C
ENST00000696375.1:n.7997T>C (FANCL)
ENST00000696376.1:n.6850T>C (FANCL)
ENST00000696378.1:c.*1082T>C (FANCL)	ENSP00000512589.1:n.*1082T>C
ENST00000696394.1:n.4566T>C (FANCL)
ENST00000696395.1:n.4505T>C (FANCL)
ENST00000696396.1:n.2218T>C (FANCL)
ENST00000696397.1:n.3189T>C (FANCL)
ENST00000696398.1:c.*211T>C (FANCL)	ENSP00000512604.1:n.*211T>C
ENST00000696399.1:n.2338T>C (FANCL)
ENST00000696400.1:c.*828T>C (FANCL)	ENSP00000512605.1:n.*828T>C
ENST00000696409.1:c.*581T>C (FANCL)	ENSP00000512610.1:n.*581T>C
ENST00000696410.1:c.*545T>C (FANCL)	ENSP00000512611.1:n.*545T>C
ENST00000696411.1:n.769T>C (FANCL)
ENST00000696412.1:n.1563T>C (FANCL)
ENST00000696413.1:n.1066T>C (FANCL)
ENST00000696414.1:n.2110T>C (FANCL)
ENST00000696415.1:c.*37T>C (FANCL)	ENSP00000512612.1:n.*37T>C
ENST00000696416.1:n.1072T>C (FANCL)
ENST00000696432.1:n.3523T>C (FANCL)
ENST00000696433.1:c.*117T>C (FANCL)	ENSP00000512627.1:n.*117T>C
ENST00000696434.1:c.902T>C (FANCL)	ENSP00000512628.1:p.Ile301Thr
ENST00000696435.1:c.*211T>C (FANCL)	ENSP00000512629.1:n.*211T>C
ENST00000696436.1:n.1018T>C (FANCL)
ENST00000696437.1:n.1481T>C (FANCL)
ENST00000696438.1:c.*897T>C (FANCL)	ENSP00000512630.1:n.*897T>C
ENST00000696439.1:n.3113T>C (FANCL)
ENST00000696440.1:n.2100T>C (FANCL)
ENST00000696454.1:c.*415T>C (FANCL)	ENSP00000512641.1:n.*415T>C
ENST00000696455.1:c.*117T>C (FANCL)	ENSP00000512642.1:n.*117T>C
ENST00000696456.1:n.574T>C (FANCL)
ENST00000696457.1:c.*1835T>C (FANCL)	ENSP00000512643.1:n.*1835T>C
ENST00000696458.1:c.*37T>C (FANCL)	ENSP00000512644.1:n.*37T>C
ENST00000696459.1:c.*499T>C (FANCL)	ENSP00000512645.1:n.*499T>C
ENST00000696460.1:n.1561T>C (FANCL)
ENST00000696467.1:c.*560T>C (FANCL)	ENSP00000512648.1:n.*560T>C
ENST00000696468.1:c.*556T>C (FANCL)	ENSP00000512649.1:n.*556T>C
ENST00000696469.1:c.*211T>C (FANCL)	ENSP00000512650.1:n.*211T>C
ENST00000696470.1:n.3232T>C (FANCL)
ENST00000696471.1:n.734T>C (FANCL)
ENST00000696472.1:c.*117T>C (FANCL)	ENSP00000512651.1:n.*117T>C
ENST00000696473.1:c.*747T>C (FANCL)	ENSP00000512652.1:n.*747T>C
ENST00000696474.1:n.940T>C (FANCL)
ENST00000696475.1:n.2572T>C (FANCL)
ENST00000696492.1:c.*729T>C (FANCL)	ENSP00000512662.1:n.*729T>C
ENST00000696493.1:c.*912T>C (FANCL)	ENSP00000512663.1:n.*912T>C
ENST00000696494.1:n.1096T>C (FANCL)
ENST00000696495.1:c.*810T>C (FANCL)	ENSP00000512664.1:n.*810T>C
ENST00000696496.1:n.1603T>C (FANCL)
ENST00000696497.1:n.4361T>C (FANCL)
ENST00000696498.1:n.1823T>C (FANCL)
ENST00000696499.1:c.*501T>C (FANCL)	ENSP00000512665.1:n.*501T>C
ENST00000696508.1:c.*619T>C (FANCL)	ENSP00000512674.1:n.*619T>C
ENST00000696509.1:c.*941T>C (FANCL)	ENSP00000512675.1:n.*941T>C
ENST00000696510.1:c.536T>C (FANCL)	ENSP00000512676.1:p.Ile179Thr
ENST00000696527.1:c.*117T>C (FANCL)	ENSP00000512690.1:n.*117T>C
ENST00000696528.1:c.*117T>C (FANCL)	ENSP00000512691.1:n.*117T>C
ENST00000696529.1:n.927T>C (FANCL)
ENST00000696530.1:c.860T>C (FANCL)	ENSP00000512692.1:p.Ile287Thr
ENST00000696531.1:c.*596T>C (FANCL)	ENSP00000512693.1:n.*596T>C
ENST00000696532.1:n.2211T>C (FANCL)
ENST00000696542.1:n.1002T>C (FANCL)
ENST00000696543.1:c.*117T>C (FANCL)	ENSP00000512703.1:n.*117T>C
ENST00000696544.1:c.*117T>C (FANCL)	ENSP00000512704.1:n.*117T>C
ENST00000696545.1:c.*732T>C (FANCL)	ENSP00000512705.1:n.*732T>C
ENST00000696546.1:c.*843T>C (FANCL)	ENSP00000512706.1:n.*843T>C
ENST00000696547.1:c.1052T>C (FANCL)	ENSP00000512707.1:p.Ile351Thr
ENST00000696548.1:c.*1268T>C (FANCL)	ENSP00000512708.1:n.*1268T>C
ENST00000696564.1:c.*117T>C (FANCL)	ENSP00000512722.1:n.*117T>C
ENST00000696565.1:c.*117T>C (FANCL)	ENSP00000512723.1:n.*117T>C
ENST00000696566.1:n.3652T>C (FANCL)
ENST00000696567.1:c.959T>C (FANCL)	ENSP00000512724.1:p.Ile320Thr
ENST00000696568.1:n.490T>C (FANCL)
ENST00000696569.1:n.1173T>C (FANCL)
ENST00000696570.1:c.*386T>C (FANCL)	ENSP00000512725.1:n.*386T>C
ENST00000696619.1:n.2620T>C (FANCL)
ENST00000696620.1:c.656T>C (FANCL)	ENSP00000512759.1:p.Ile219Thr
ENST00000696621.1:c.*211T>C (FANCL)	ENSP00000512760.1:n.*211T>C
ENST00000696622.1:n.2795T>C (FANCL)
ENST00000696623.1:n.1030T>C (FANCL)
ENST00000696624.1:c.995T>C (FANCL)	ENSP00000512761.1:p.Ile332Thr
ENST00000696625.1:c.*514T>C (FANCL)	ENSP00000512762.1:n.*514T>C
ENST00000696634.1:c.777T>C (FANCL)	ENSP00000512770.1:n.777T>C
ENST00000696635.1:c.1040T>C (FANCL)	ENSP00000512771.1:p.Ile347Thr
ENST00000696636.1:n.3516T>C (FANCL)
ENST00000696637.1:n.8137T>C (FANCL)
ENST00000696638.1:n.1079T>C (FANCL)
ENST00000696639.1:n.3142T>C (FANCL)
ENST00000233741.9:c.1064T>C (FANCL) MANE Select	ENSP00000233741.5:p.Ile355Thr
ENST00000233741.8:c.1064T>C (FANCL)	ENSP00000233741.4:p.Ile355Thr
ENST00000402135.7:c.1079T>C (FANCL)	ENSP00000385021.3:p.Ile360Thr
ENST00000403295.7:c.980T>C (FANCL)	ENSP00000386097.3:p.Ile327Thr
ENST00000403676.5:c.713T>C (FANCL)	ENSP00000384046.1:p.Ile238Thr
ENST00000449070.5:c.887T>C (FANCL)	ENSP00000401280.1:p.Ile296Thr
NM_001114636.1:c.1079T>C , LRG_501t1:c.1079T>C (FANCL)	NP_001108108.1:p.Ile360Thr
NM_018062.3:c.1064T>C , LRG_501t2:c.1064T>C (FANCL)	NP_060532.2:p.Ile355Thr
XM_005264395.2:c.1064T>C (FANCL)	XP_005264452.1:p.Ile355Thr
XM_005264397.3:c.713T>C (FANCL)	XP_005264454.1:p.Ile238Thr
XM_011532939.1:c.1124T>C (FANCL)	XP_011531241.1:p.Ile375Thr
XM_011532940.1:c.1109T>C (FANCL)	XP_011531242.1:p.Ile370Thr
XM_011532941.1:c.1124T>C (FANCL)	XP_011531243.1:p.Ile375Thr
XM_011532942.1:c.1079T>C (FANCL)	XP_011531244.1:p.Ile360Thr
XM_011532943.1:c.1325T>C (FANCL)	XP_011531245.1:p.Ile442Thr
XM_011532944.1:c.773T>C (FANCL)	XP_011531246.1:p.Ile258Thr
XM_011532945.1:c.728T>C (FANCL)	XP_011531247.1:p.Ile243Thr
XR_939692.1:n.1063T>C (FANCL)
NR_156742.1:n.853T>C (FANCL)
XM_005264395.4:c.1064T>C (FANCL)	XP_005264452.1:p.Ile355Thr
XM_005264540.4:c.*443A>G (VRK2)	XP_005264597.1:n.*443A>G
XM_006712090.4:c.*820A>G (VRK2)	XP_006712153.1:n.*820A>G
XM_006712092.4:c.*443A>G (VRK2)	XP_006712155.1:n.*443A>G
XM_006712093.4:c.*443A>G (VRK2)	XP_006712156.1:n.*443A>G
XM_011532939.3:c.1124T>C (FANCL)	XP_011531241.1:p.Ile375Thr
XM_011532940.3:c.1109T>C (FANCL)	XP_011531242.1:p.Ile370Thr
XM_011532941.2:c.1124T>C (FANCL)	XP_011531243.1:p.Ile375Thr
XM_011532942.3:c.1079T>C (FANCL)	XP_011531244.1:p.Ile360Thr
XM_011532944.2:c.773T>C (FANCL)	XP_011531246.1:p.Ile258Thr
XM_011532945.2:c.728T>C (FANCL)	XP_011531247.1:p.Ile243Thr
XM_011533092.3:c.*443A>G (VRK2)	XP_011531394.1:n.*443A>G
XM_017004414.2:c.1109T>C (FANCL)	XP_016859903.1:p.Ile370Thr
XM_017004416.1:c.713T>C (FANCL)	XP_016859905.1:p.Ile238Thr
XM_017004858.2:c.*820A>G (VRK2)	XP_016860347.1:n.*820A>G
XM_017004859.2:c.*443A>G (VRK2)	XP_016860348.1:n.*443A>G
XM_017004860.2:c.*443A>G (VRK2)	XP_016860349.1:n.*443A>G
XM_017004861.2:c.*443A>G (VRK2)	XP_016860350.1:n.*443A>G
XM_017004862.2:c.*443A>G (VRK2)	XP_016860351.1:n.*443A>G
XM_017004863.2:c.*443A>G (VRK2)	XP_016860352.1:n.*443A>G
XM_017004864.2:c.*820A>G (VRK2)	XP_016860353.1:n.*820A>G
XM_017004865.1:c.*828A>G (VRK2)	XP_016860354.1:n.*828A>G
XM_017004866.1:c.*828A>G (VRK2)	XP_016860355.1:n.*828A>G
XR_001738802.2:n.1010T>C (FANCL)
XR_001738803.2:n.995T>C (FANCL)
XR_002959309.1:n.1706T>C (FANCL)
XR_939692.2:n.1055T>C (FANCL)
NM_001374615.1:c.1109T>C (FANCL)	NP_001361544.1:p.Ile370Thr
NM_018062.4:c.1064T>C (FANCL) MANE Select	NP_060532.2:p.Ile355Thr
NR_164659.1:n.945T>C (FANCL)