Canonical Allele Identifier: CA346930857

Gene: FANCL VRK2

Linked Data

• MyVariant Identifiers: chr2:g.58387242C>T (hg19) ; chr2:g.58160107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58160107C>T , CM000664.2:g.58160107C>T	GRCh38
NC_000002.11:g.58387242C>T , CM000664.1:g.58387242C>T	GRCh37
NC_000002.10:g.58240746C>T	NCBI36
NG_007418.1:g.86273G>A , LRG_501:g.86273G>A
NG_029717.2:g.257367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.1107+1G>A (FANCL)	ENSP00000385021.3:n.1107+1G>A
ENST00000403295.8:c.1008+1G>A (FANCL)	ENSP00000386097.3:n.1008+1G>A
ENST00000403676.6:c.*655+1G>A (FANCL)	ENSP00000384046.2:n.*655+1G>A
ENST00000417361.2:c.*670+1G>A (FANCL)	ENSP00000389448.2:n.*670+1G>A
ENST00000427708.7:c.1137+1G>A (FANCL)	ENSP00000400969.3:n.1137+1G>A
ENST00000446381.6:c.648+1G>A (FANCL)	ENSP00000390991.2:n.648+1G>A
ENST00000449070.6:c.915+1G>A (FANCL)	ENSP00000401280.2:n.915+1G>A
ENST00000470506.2:n.1606+1G>A (FANCL)
ENST00000696305.1:c.1035+1G>A (FANCL)	ENSP00000512543.1:n.1035+1G>A
ENST00000696306.1:c.*982+1G>A (FANCL)	ENSP00000512544.1:n.*982+1G>A
ENST00000696307.1:c.1077+1G>A (FANCL)	ENSP00000512545.1:n.1077+1G>A
ENST00000696314.1:c.*145+1G>A (FANCL)	ENSP00000512552.1:n.*145+1G>A
ENST00000696315.1:c.*656G>A (FANCL)	ENSP00000512553.1:n.*656G>A
ENST00000696316.1:c.975+1G>A (FANCL)	ENSP00000512554.1:n.975+1G>A
ENST00000696317.1:c.*65+1G>A (FANCL)	ENSP00000512555.1:n.*65+1G>A
ENST00000696318.1:c.*146G>A (FANCL)	ENSP00000512556.1:n.*146G>A
ENST00000696319.1:c.1050+1G>A (FANCL)	ENSP00000512557.1:n.1050+1G>A
ENST00000696320.1:n.2771+1G>A (FANCL)
ENST00000696324.1:c.*542+1G>A (FANCL)	ENSP00000512561.1:n.*542+1G>A
ENST00000696325.1:n.4175+1G>A (FANCL)
ENST00000696326.1:c.1152+1G>A (FANCL)	ENSP00000512562.1:n.1152+1G>A
ENST00000696338.1:n.1206+1G>A (FANCL)
ENST00000696339.1:n.2665G>A (FANCL)
ENST00000696340.1:n.3318+1G>A (FANCL)
ENST00000696341.1:n.1600+1G>A (FANCL)
ENST00000696342.1:c.*2323G>A (FANCL)	ENSP00000512569.1:n.*2323G>A
ENST00000696343.1:n.2952G>A (FANCL)
ENST00000696344.1:c.*806+1G>A (FANCL)	ENSP00000512570.1:n.*806+1G>A
ENST00000696358.1:n.3765+1G>A (FANCL)
ENST00000696359.1:n.3443G>A (FANCL)
ENST00000696360.1:n.1877+1G>A (FANCL)
ENST00000696361.1:c.*1095+1G>A (FANCL)	ENSP00000512579.1:n.*1095+1G>A
ENST00000696362.1:c.*542+1G>A (FANCL)	ENSP00000512580.1:n.*542+1G>A
ENST00000696363.1:n.2869+1G>A (FANCL)
ENST00000696364.1:n.1485+1G>A (FANCL)
ENST00000696371.1:c.1083+1G>A (FANCL)	ENSP00000512586.1:n.1083+1G>A
ENST00000696372.1:n.2181+1G>A (FANCL)
ENST00000696373.1:c.*2322+1G>A (FANCL)	ENSP00000512587.1:n.*2322+1G>A
ENST00000696374.1:c.*460+1G>A (FANCL)	ENSP00000512588.1:n.*460+1G>A
ENST00000696375.1:n.8025+1G>A (FANCL)
ENST00000696376.1:n.6878+1G>A (FANCL)
ENST00000696378.1:c.*1110+1G>A (FANCL)	ENSP00000512589.1:n.*1110+1G>A
ENST00000696394.1:n.4594+1G>A (FANCL)
ENST00000696395.1:n.4533+1G>A (FANCL)
ENST00000696396.1:n.2246+1G>A (FANCL)
ENST00000696397.1:n.3218G>A (FANCL)
ENST00000696398.1:c.*239+1G>A (FANCL)	ENSP00000512604.1:n.*239+1G>A
ENST00000696399.1:n.2366+1G>A (FANCL)
ENST00000696400.1:c.*856+1G>A (FANCL)	ENSP00000512605.1:n.*856+1G>A
ENST00000696409.1:c.*609+1G>A (FANCL)	ENSP00000512610.1:n.*609+1G>A
ENST00000696410.1:c.*573+1G>A (FANCL)	ENSP00000512611.1:n.*573+1G>A
ENST00000696411.1:n.797+1G>A (FANCL)
ENST00000696412.1:n.1591+1G>A (FANCL)
ENST00000696413.1:n.1095G>A (FANCL)
ENST00000696414.1:n.2138+1G>A (FANCL)
ENST00000696415.1:c.*65+1G>A (FANCL)	ENSP00000512612.1:n.*65+1G>A
ENST00000696416.1:n.1101G>A (FANCL)
ENST00000696432.1:n.3551+1G>A (FANCL)
ENST00000696433.1:c.*145+1G>A (FANCL)	ENSP00000512627.1:n.*145+1G>A
ENST00000696434.1:c.930+1G>A (FANCL)	ENSP00000512628.1:n.930+1G>A
ENST00000696435.1:c.*239+1G>A (FANCL)	ENSP00000512629.1:n.*239+1G>A
ENST00000696436.1:n.1046+1G>A (FANCL)
ENST00000696437.1:n.1510G>A (FANCL)
ENST00000696438.1:c.*925+1G>A (FANCL)	ENSP00000512630.1:n.*925+1G>A
ENST00000696439.1:n.3141+1G>A (FANCL)
ENST00000696440.1:n.2128+1G>A (FANCL)
ENST00000696454.1:c.*443+1G>A (FANCL)	ENSP00000512641.1:n.*443+1G>A
ENST00000696455.1:c.*145+1G>A (FANCL)	ENSP00000512642.1:n.*145+1G>A
ENST00000696456.1:n.602+1G>A (FANCL)
ENST00000696457.1:c.*1863+1G>A (FANCL)	ENSP00000512643.1:n.*1863+1G>A
ENST00000696458.1:c.*65+1G>A (FANCL)	ENSP00000512644.1:n.*65+1G>A
ENST00000696459.1:c.*527+1G>A (FANCL)	ENSP00000512645.1:n.*527+1G>A
ENST00000696460.1:n.1589+1G>A (FANCL)
ENST00000696467.1:c.*588+1G>A (FANCL)	ENSP00000512648.1:n.*588+1G>A
ENST00000696468.1:c.*584+1G>A (FANCL)	ENSP00000512649.1:n.*584+1G>A
ENST00000696469.1:c.*239+1G>A (FANCL)	ENSP00000512650.1:n.*239+1G>A
ENST00000696470.1:n.3260+1G>A (FANCL)
ENST00000696471.1:n.762+1G>A (FANCL)
ENST00000696472.1:c.*145+1G>A (FANCL)	ENSP00000512651.1:n.*145+1G>A
ENST00000696473.1:c.*775+1G>A (FANCL)	ENSP00000512652.1:n.*775+1G>A
ENST00000696474.1:n.968+1G>A (FANCL)
ENST00000696475.1:n.2600+1G>A (FANCL)
ENST00000696492.1:c.*757+1G>A (FANCL)	ENSP00000512662.1:n.*757+1G>A
ENST00000696493.1:c.*940+1G>A (FANCL)	ENSP00000512663.1:n.*940+1G>A
ENST00000696494.1:n.1124+1G>A (FANCL)
ENST00000696495.1:c.*838+1G>A (FANCL)	ENSP00000512664.1:n.*838+1G>A
ENST00000696496.1:n.1631+1G>A (FANCL)
ENST00000696497.1:n.4389+1G>A (FANCL)
ENST00000696498.1:n.1851+1G>A (FANCL)
ENST00000696499.1:c.*529+1G>A (FANCL)	ENSP00000512665.1:n.*529+1G>A
ENST00000696508.1:c.*647+1G>A (FANCL)	ENSP00000512674.1:n.*647+1G>A
ENST00000696509.1:c.*969+1G>A (FANCL)	ENSP00000512675.1:n.*969+1G>A
ENST00000696510.1:c.564+1G>A (FANCL)	ENSP00000512676.1:n.564+1G>A
ENST00000696527.1:c.*146G>A (FANCL)	ENSP00000512690.1:n.*146G>A
ENST00000696528.1:c.*145+1G>A (FANCL)	ENSP00000512691.1:n.*145+1G>A
ENST00000696529.1:n.955+1G>A (FANCL)
ENST00000696530.1:c.888+1G>A (FANCL)	ENSP00000512692.1:n.888+1G>A
ENST00000696531.1:c.*624+1G>A (FANCL)	ENSP00000512693.1:n.*624+1G>A
ENST00000696532.1:n.2239+1G>A (FANCL)
ENST00000696542.1:n.1030+1G>A (FANCL)
ENST00000696543.1:c.*145+1G>A (FANCL)	ENSP00000512703.1:n.*145+1G>A
ENST00000696544.1:c.*145+1G>A (FANCL)	ENSP00000512704.1:n.*145+1G>A
ENST00000696545.1:c.*760+1G>A (FANCL)	ENSP00000512705.1:n.*760+1G>A
ENST00000696546.1:c.*871+1G>A (FANCL)	ENSP00000512706.1:n.*871+1G>A
ENST00000696547.1:c.1080+1G>A (FANCL)	ENSP00000512707.1:n.1080+1G>A
ENST00000696548.1:c.*1296+1G>A (FANCL)	ENSP00000512708.1:n.*1296+1G>A
ENST00000696564.1:c.*145+1G>A (FANCL)	ENSP00000512722.1:n.*145+1G>A
ENST00000696565.1:c.*145+1G>A (FANCL)	ENSP00000512723.1:n.*145+1G>A
ENST00000696566.1:n.3680+1G>A (FANCL)
ENST00000696567.1:c.987+1G>A (FANCL)	ENSP00000512724.1:n.987+1G>A
ENST00000696568.1:n.518+1G>A (FANCL)
ENST00000696569.1:n.1201+1G>A (FANCL)
ENST00000696570.1:c.*414+1G>A (FANCL)	ENSP00000512725.1:n.*414+1G>A
ENST00000696619.1:n.2648+1G>A (FANCL)
ENST00000696620.1:c.684+1G>A (FANCL)	ENSP00000512759.1:n.684+1G>A
ENST00000696621.1:c.*239+1G>A (FANCL)	ENSP00000512760.1:n.*239+1G>A
ENST00000696622.1:n.2823+1G>A (FANCL)
ENST00000696623.1:n.1058+1G>A (FANCL)
ENST00000696624.1:c.1023+1G>A (FANCL)	ENSP00000512761.1:n.1023+1G>A
ENST00000696625.1:c.*542+1G>A (FANCL)	ENSP00000512762.1:n.*542+1G>A
ENST00000696634.1:c.805+1G>A (FANCL)	ENSP00000512770.1:n.805+1G>A
ENST00000696635.1:c.1068+1G>A (FANCL)	ENSP00000512771.1:n.1068+1G>A
ENST00000696636.1:n.3545G>A (FANCL)
ENST00000696637.1:n.8165+1G>A (FANCL)
ENST00000696638.1:n.1107+1G>A (FANCL)
ENST00000696639.1:n.3171G>A (FANCL)
ENST00000233741.9:c.1092+1G>A (FANCL) MANE Select	ENSP00000233741.5:n.1092+1G>A
ENST00000233741.8:c.1092+1G>A (FANCL)	ENSP00000233741.4:n.1092+1G>A
ENST00000402135.7:c.1107+1G>A (FANCL)	ENSP00000385021.3:n.1107+1G>A
ENST00000403295.7:c.1008+1G>A (FANCL)	ENSP00000386097.3:n.1008+1G>A
ENST00000403676.5:c.741+1G>A (FANCL)	ENSP00000384046.1:n.741+1G>A
NM_001114636.1:c.1107+1G>A , LRG_501t1:c.1107+1G>A (FANCL)	NP_001108108.1:n.1107+1G>A
NM_018062.3:c.1092+1G>A , LRG_501t2:c.1092+1G>A (FANCL)	NP_060532.2:n.1092+1G>A
XM_005264395.2:c.1093G>A (FANCL)	XP_005264452.1:p.Val365Ile
XM_005264397.3:c.741+1G>A (FANCL)	XP_005264454.1:n.741+1G>A
XM_011532939.1:c.1153G>A (FANCL)	XP_011531241.1:p.Val385Ile
XM_011532940.1:c.1138G>A (FANCL)	XP_011531242.1:p.Val380Ile
XM_011532941.1:c.1152+1G>A (FANCL)	XP_011531243.1:n.1152+1G>A
XM_011532942.1:c.1108G>A (FANCL)	XP_011531244.1:p.Val370Ile
XM_011532943.1:c.1354G>A (FANCL)	XP_011531245.1:p.Val452Ile
XM_011532944.1:c.802G>A (FANCL)	XP_011531246.1:p.Val268Ile
XM_011532945.1:c.757G>A (FANCL)	XP_011531247.1:p.Val253Ile
XR_939692.1:n.1091+1G>A (FANCL)
NR_156742.1:n.881+1G>A (FANCL)
XM_005264395.4:c.1093G>A (FANCL)	XP_005264452.1:p.Val365Ile
XM_005264540.4:c.*414C>T (VRK2)	XP_005264597.1:n.*414C>T
XM_006712090.4:c.*791C>T (VRK2)	XP_006712153.1:n.*791C>T
XM_006712092.4:c.*414C>T (VRK2)	XP_006712155.1:n.*414C>T
XM_006712093.4:c.*414C>T (VRK2)	XP_006712156.1:n.*414C>T
XM_011532939.3:c.1153G>A (FANCL)	XP_011531241.1:p.Val385Ile
XM_011532940.3:c.1138G>A (FANCL)	XP_011531242.1:p.Val380Ile
XM_011532941.2:c.1152+1G>A (FANCL)	XP_011531243.1:n.1152+1G>A
XM_011532942.3:c.1108G>A (FANCL)	XP_011531244.1:p.Val370Ile
XM_011532944.2:c.802G>A (FANCL)	XP_011531246.1:p.Val268Ile
XM_011532945.2:c.757G>A (FANCL)	XP_011531247.1:p.Val253Ile
XM_011533092.3:c.*414C>T (VRK2)	XP_011531394.1:n.*414C>T
XM_017004414.2:c.1137+1G>A (FANCL)	XP_016859903.1:n.1137+1G>A
XM_017004416.1:c.742G>A (FANCL)	XP_016859905.1:p.Val248Ile
XM_017004858.2:c.*791C>T (VRK2)	XP_016860347.1:n.*791C>T
XM_017004859.2:c.*414C>T (VRK2)	XP_016860348.1:n.*414C>T
XM_017004860.2:c.*414C>T (VRK2)	XP_016860349.1:n.*414C>T
XM_017004861.2:c.*414C>T (VRK2)	XP_016860350.1:n.*414C>T
XM_017004862.2:c.*414C>T (VRK2)	XP_016860351.1:n.*414C>T
XM_017004863.2:c.*414C>T (VRK2)	XP_016860352.1:n.*414C>T
XM_017004864.2:c.*791C>T (VRK2)	XP_016860353.1:n.*791C>T
XM_017004865.1:c.*799C>T (VRK2)	XP_016860354.1:n.*799C>T
XM_017004866.1:c.*799C>T (VRK2)	XP_016860355.1:n.*799C>T
XR_001738802.2:n.1038+1G>A (FANCL)
XR_001738803.2:n.1023+1G>A (FANCL)
XR_002959309.1:n.1734+1G>A (FANCL)
XR_939692.2:n.1083+1G>A (FANCL)
NM_001374615.1:c.1137+1G>A (FANCL)	NP_001361544.1:n.1137+1G>A
NM_018062.4:c.1092+1G>A (FANCL) MANE Select	NP_060532.2:n.1092+1G>A
NR_164659.1:n.973+1G>A (FANCL)