Canonical Allele Identifier: CA1670297
Community Standard Title: NM_006296.7(VRK2):c.*118A>T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58159811A>T , CM000664.2:g.58159811A>T GRCh38
NC_000002.11:g.58386946A>T , CM000664.1:g.58386946A>T GRCh37
NC_000002.10:g.58240450A>T NCBI36
NG_007418.1:g.86569T>A , LRG_501:g.86569T>A
NG_029717.2:g.257071A>T

Transcript Alleles

HGVS Amino-acid Change
NM_006296.7:c.*118A>T (VRK2) MANE Select NP_006287.2:n.*118A>T
NM_018062.4:c.1093-11T>A (FANCL) MANE Select NP_060532.2:n.1093-11T>A
ENST00000233741.9:c.1093-11T>A (FANCL) MANE Select ENSP00000233741.5:n.1093-11T>A
ENST00000340157.9:c.*118A>T (VRK2) MANE Select ENSP00000342381.4:n.*118A>T
NM_001114636.1:c.1108-11T>A , LRG_501t1:c.1108-11T>A (FANCL) NP_001108108.1:n.1108-11T>A
NM_001130480.2:c.*118A>T (VRK2) NP_001123952.1:n.*118A>T
NM_001130481.2:c.*118A>T (VRK2) NP_001123953.1:n.*118A>T
NM_001130482.2:c.*118A>T (VRK2) NP_001123954.1:n.*118A>T
NM_001130483.2:c.*503A>T (VRK2) NP_001123955.1:n.*503A>T
NM_001288836.1:c.*118A>T (VRK2) NP_001275765.1:n.*118A>T
NM_001288837.1:c.*118A>T (VRK2) NP_001275766.1:n.*118A>T
NM_001288837.2:c.*118A>T (VRK2) NP_001275766.1:n.*118A>T
NM_001288838.1:c.*503A>T (VRK2) NP_001275767.1:n.*503A>T
NM_001288838.2:c.*503A>T (VRK2) NP_001275767.1:n.*503A>T
NM_001288839.1:c.*118A>T (VRK2) NP_001275768.1:n.*118A>T
NM_001288839.2:c.*118A>T (VRK2) NP_001275768.1:n.*118A>T
NM_001374615.1:c.1138-11T>A (FANCL) NP_001361544.1:n.1138-11T>A
NM_006296.6:c.*118A>T (VRK2) NP_006287.2:n.*118A>T
NM_018062.3:c.1093-11T>A , LRG_501t2:c.1093-11T>A (FANCL) NP_060532.2:n.1093-11T>A
NR_156742.1:n.882-11T>A (FANCL)
NR_164659.1:n.974-11T>A (FANCL)
ENST00000233741.8:c.1093-11T>A (FANCL) ENSP00000233741.4:n.1093-11T>A
ENST00000340157.8:c.*118A>T (VRK2) ENSP00000342381.4:n.*118A>T
ENST00000402135.7:c.1108-11T>A (FANCL) ENSP00000385021.3:n.1108-11T>A
ENST00000402135.8:c.1108-11T>A (FANCL) ENSP00000385021.3:n.1108-11T>A
ENST00000403295.7:c.1009-11T>A (FANCL) ENSP00000386097.3:n.1009-11T>A
ENST00000403295.8:c.1009-11T>A (FANCL) ENSP00000386097.3:n.1009-11T>A
ENST00000403676.5:c.742-11T>A (FANCL) ENSP00000384046.1:n.742-11T>A
ENST00000403676.6:c.*656-11T>A (FANCL) ENSP00000384046.2:n.*656-11T>A
ENST00000412104.6:c.*118A>T (VRK2) ENSP00000404156.3:n.*118A>T
ENST00000417361.2:c.*671-11T>A (FANCL) ENSP00000389448.2:n.*671-11T>A
ENST00000417641.6:c.*503A>T (VRK2) ENSP00000402375.2:n.*503A>T
ENST00000427708.7:c.1138-11T>A (FANCL) ENSP00000400969.3:n.1138-11T>A
ENST00000435505.6:c.*118A>T (VRK2) ENSP00000408002.2:n.*118A>T
ENST00000446381.6:c.649-11T>A (FANCL) ENSP00000390991.2:n.649-11T>A
ENST00000449070.6:c.916-11T>A (FANCL) ENSP00000401280.2:n.916-11T>A
ENST00000470506.2:n.1607-11T>A (FANCL)
ENST00000648897.1:c.*495A>T (VRK2) ENSP00000497378.1:n.*495A>T
ENST00000696305.1:c.1036-11T>A (FANCL) ENSP00000512543.1:n.1036-11T>A
ENST00000696306.1:c.*983-11T>A (FANCL) ENSP00000512544.1:n.*983-11T>A
ENST00000696307.1:c.1078-11T>A (FANCL) ENSP00000512545.1:n.1078-11T>A
ENST00000696314.1:c.*146-11T>A (FANCL) ENSP00000512552.1:n.*146-11T>A
ENST00000696315.1:c.*952T>A (FANCL) ENSP00000512553.1:n.*952T>A
ENST00000696316.1:c.976-11T>A (FANCL) ENSP00000512554.1:n.976-11T>A
ENST00000696317.1:c.*66-11T>A (FANCL) ENSP00000512555.1:n.*66-11T>A
ENST00000696318.1:c.*442T>A (FANCL) ENSP00000512556.1:n.*442T>A
ENST00000696319.1:c.1051-11T>A (FANCL) ENSP00000512557.1:n.1051-11T>A
ENST00000696320.1:n.2772-11T>A (FANCL)
ENST00000696324.1:c.*543-11T>A (FANCL) ENSP00000512561.1:n.*543-11T>A
ENST00000696325.1:n.4176-11T>A (FANCL)
ENST00000696326.1:c.1153-11T>A (FANCL) ENSP00000512562.1:n.1153-11T>A
ENST00000696338.1:n.1207-11T>A (FANCL)
ENST00000696339.1:n.2961T>A (FANCL)
ENST00000696340.1:n.3319-11T>A (FANCL)
ENST00000696341.1:n.1601-11T>A (FANCL)
ENST00000696342.1:c.*2619T>A (FANCL) ENSP00000512569.1:n.*2619T>A
ENST00000696343.1:n.3248T>A (FANCL)
ENST00000696344.1:c.*807-11T>A (FANCL) ENSP00000512570.1:n.*807-11T>A
ENST00000696358.1:n.3766-11T>A (FANCL)
ENST00000696359.1:n.3739T>A (FANCL)
ENST00000696360.1:n.1878-11T>A (FANCL)
ENST00000696361.1:c.*1096-11T>A (FANCL) ENSP00000512579.1:n.*1096-11T>A
ENST00000696362.1:c.*543-11T>A (FANCL) ENSP00000512580.1:n.*543-11T>A
ENST00000696363.1:n.2870-11T>A (FANCL)
ENST00000696364.1:n.1486-11T>A (FANCL)
ENST00000696371.1:c.1084-11T>A (FANCL) ENSP00000512586.1:n.1084-11T>A
ENST00000696372.1:n.2182-11T>A (FANCL)
ENST00000696373.1:c.*2323-11T>A (FANCL) ENSP00000512587.1:n.*2323-11T>A
ENST00000696374.1:c.*461-11T>A (FANCL) ENSP00000512588.1:n.*461-11T>A
ENST00000696375.1:n.8026-11T>A (FANCL)
ENST00000696376.1:n.6879-11T>A (FANCL)
ENST00000696378.1:c.*1111-11T>A (FANCL) ENSP00000512589.1:n.*1111-11T>A
ENST00000696394.1:n.4595-11T>A (FANCL)
ENST00000696395.1:n.4534-11T>A (FANCL)
ENST00000696396.1:n.2247-11T>A (FANCL)
ENST00000696397.1:n.3514T>A (FANCL)
ENST00000696398.1:c.*240-11T>A (FANCL) ENSP00000512604.1:n.*240-11T>A
ENST00000696399.1:n.2367-11T>A (FANCL)
ENST00000696400.1:c.*857-11T>A (FANCL) ENSP00000512605.1:n.*857-11T>A
ENST00000696409.1:c.*610-11T>A (FANCL) ENSP00000512610.1:n.*610-11T>A
ENST00000696410.1:c.*574-11T>A (FANCL) ENSP00000512611.1:n.*574-11T>A
ENST00000696411.1:n.798-11T>A (FANCL)
ENST00000696412.1:n.1592-11T>A (FANCL)
ENST00000696413.1:n.1391T>A (FANCL)
ENST00000696414.1:n.2139-11T>A (FANCL)
ENST00000696415.1:c.*66-11T>A (FANCL) ENSP00000512612.1:n.*66-11T>A
ENST00000696416.1:n.1397T>A (FANCL)
ENST00000696432.1:n.3552-11T>A (FANCL)
ENST00000696433.1:c.*146-11T>A (FANCL) ENSP00000512627.1:n.*146-11T>A
ENST00000696434.1:c.931-11T>A (FANCL) ENSP00000512628.1:n.931-11T>A
ENST00000696435.1:c.*240-11T>A (FANCL) ENSP00000512629.1:n.*240-11T>A
ENST00000696436.1:n.1047-11T>A (FANCL)
ENST00000696437.1:n.1806T>A (FANCL)
ENST00000696438.1:c.*926-11T>A (FANCL) ENSP00000512630.1:n.*926-11T>A
ENST00000696439.1:n.3142-11T>A (FANCL)
ENST00000696440.1:n.2129-11T>A (FANCL)
ENST00000696454.1:c.*444-11T>A (FANCL) ENSP00000512641.1:n.*444-11T>A
ENST00000696455.1:c.*146-11T>A (FANCL) ENSP00000512642.1:n.*146-11T>A
ENST00000696456.1:n.603-11T>A (FANCL)
ENST00000696457.1:c.*1864-11T>A (FANCL) ENSP00000512643.1:n.*1864-11T>A
ENST00000696458.1:c.*66-11T>A (FANCL) ENSP00000512644.1:n.*66-11T>A
ENST00000696459.1:c.*528-11T>A (FANCL) ENSP00000512645.1:n.*528-11T>A
ENST00000696460.1:n.1590-11T>A (FANCL)
ENST00000696467.1:c.*589-11T>A (FANCL) ENSP00000512648.1:n.*589-11T>A
ENST00000696468.1:c.*585-11T>A (FANCL) ENSP00000512649.1:n.*585-11T>A
ENST00000696469.1:c.*240-11T>A (FANCL) ENSP00000512650.1:n.*240-11T>A
ENST00000696470.1:n.3261-11T>A (FANCL)
ENST00000696471.1:n.763-11T>A (FANCL)
ENST00000696472.1:c.*146-11T>A (FANCL) ENSP00000512651.1:n.*146-11T>A
ENST00000696473.1:c.*776-11T>A (FANCL) ENSP00000512652.1:n.*776-11T>A
ENST00000696474.1:n.969-11T>A (FANCL)
ENST00000696475.1:n.2601-11T>A (FANCL)
ENST00000696492.1:c.*758-11T>A (FANCL) ENSP00000512662.1:n.*758-11T>A
ENST00000696493.1:c.*941-11T>A (FANCL) ENSP00000512663.1:n.*941-11T>A
ENST00000696494.1:n.1125-11T>A (FANCL)
ENST00000696495.1:c.*839-11T>A (FANCL) ENSP00000512664.1:n.*839-11T>A
ENST00000696496.1:n.1632-11T>A (FANCL)
ENST00000696497.1:n.4390-11T>A (FANCL)
ENST00000696498.1:n.1852-11T>A (FANCL)
ENST00000696499.1:c.*530-11T>A (FANCL) ENSP00000512665.1:n.*530-11T>A
ENST00000696508.1:c.*648-11T>A (FANCL) ENSP00000512674.1:n.*648-11T>A
ENST00000696509.1:c.*970-11T>A (FANCL) ENSP00000512675.1:n.*970-11T>A
ENST00000696510.1:c.565-11T>A (FANCL) ENSP00000512676.1:n.565-11T>A
ENST00000696527.1:c.*442T>A (FANCL) ENSP00000512690.1:n.*442T>A
ENST00000696528.1:c.*146-11T>A (FANCL) ENSP00000512691.1:n.*146-11T>A
ENST00000696529.1:n.956-11T>A (FANCL)
ENST00000696530.1:c.889-11T>A (FANCL) ENSP00000512692.1:n.889-11T>A
ENST00000696531.1:c.*625-11T>A (FANCL) ENSP00000512693.1:n.*625-11T>A
ENST00000696532.1:n.2240-11T>A (FANCL)
ENST00000696542.1:n.1031-11T>A (FANCL)
ENST00000696543.1:c.*146-11T>A (FANCL) ENSP00000512703.1:n.*146-11T>A
ENST00000696544.1:c.*146-11T>A (FANCL) ENSP00000512704.1:n.*146-11T>A
ENST00000696545.1:c.*761-11T>A (FANCL) ENSP00000512705.1:n.*761-11T>A
ENST00000696546.1:c.*872-11T>A (FANCL) ENSP00000512706.1:n.*872-11T>A
ENST00000696547.1:c.1081-11T>A (FANCL) ENSP00000512707.1:n.1081-11T>A
ENST00000696548.1:c.*1297-11T>A (FANCL) ENSP00000512708.1:n.*1297-11T>A
ENST00000696564.1:c.*146-11T>A (FANCL) ENSP00000512722.1:n.*146-11T>A
ENST00000696565.1:c.*146-11T>A (FANCL) ENSP00000512723.1:n.*146-11T>A
ENST00000696566.1:n.3681-11T>A (FANCL)
ENST00000696567.1:c.988-11T>A (FANCL) ENSP00000512724.1:n.988-11T>A
ENST00000696568.1:n.519-11T>A (FANCL)
ENST00000696569.1:n.1202-11T>A (FANCL)
ENST00000696570.1:c.*415-11T>A (FANCL) ENSP00000512725.1:n.*415-11T>A
ENST00000696619.1:n.2649-11T>A (FANCL)
ENST00000696620.1:c.685-11T>A (FANCL) ENSP00000512759.1:n.685-11T>A
ENST00000696621.1:c.*240-11T>A (FANCL) ENSP00000512760.1:n.*240-11T>A
ENST00000696622.1:n.2824-11T>A (FANCL)
ENST00000696623.1:n.1059-11T>A (FANCL)
ENST00000696624.1:c.1024-11T>A (FANCL) ENSP00000512761.1:n.1024-11T>A
ENST00000696625.1:c.*543-11T>A (FANCL) ENSP00000512762.1:n.*543-11T>A
ENST00000696634.1:c.806-11T>A (FANCL) ENSP00000512770.1:n.806-11T>A
ENST00000696635.1:c.1069-11T>A (FANCL) ENSP00000512771.1:n.1069-11T>A
ENST00000696636.1:n.3841T>A (FANCL)
ENST00000696637.1:n.8166-11T>A (FANCL)
ENST00000696638.1:n.1108-11T>A (FANCL)
ENST00000696639.1:n.3467T>A (FANCL)
XM_005264395.4:c.*237T>A (FANCL) XP_005264452.1:n.*237T>A
XM_005264397.3:c.742-11T>A (FANCL) XP_005264454.1:n.742-11T>A
XM_005264540.3:c.*118A>T (VRK2) XP_005264597.1:n.*118A>T
XM_005264540.4:c.*118A>T (VRK2) XP_005264597.1:n.*118A>T
XM_005264541.2:c.*118A>T (VRK2) XP_005264598.1:n.*118A>T
XM_006712090.2:c.*495A>T (VRK2) XP_006712153.1:n.*495A>T
XM_006712090.4:c.*495A>T (VRK2) XP_006712153.1:n.*495A>T
XM_006712091.2:c.*503A>T (VRK2) XP_006712154.1:n.*503A>T
XM_006712091.4:c.*503A>T (VRK2) XP_006712154.1:n.*503A>T
XM_006712092.2:c.*118A>T (VRK2) XP_006712155.1:n.*118A>T
XM_006712092.4:c.*118A>T (VRK2) XP_006712155.1:n.*118A>T
XM_006712093.2:c.*118A>T (VRK2) XP_006712156.1:n.*118A>T
XM_006712093.4:c.*118A>T (VRK2) XP_006712156.1:n.*118A>T
XM_011532939.3:c.*237T>A (FANCL) XP_011531241.1:n.*237T>A
XM_011532940.3:c.*237T>A (FANCL) XP_011531242.1:n.*237T>A
XM_011532941.1:c.1153-11T>A (FANCL) XP_011531243.1:n.1153-11T>A
XM_011532941.2:c.1153-11T>A (FANCL) XP_011531243.1:n.1153-11T>A
XM_011532942.3:c.*237T>A (FANCL) XP_011531244.1:n.*237T>A
XM_011532944.2:c.*237T>A (FANCL) XP_011531246.1:n.*237T>A
XM_011532945.2:c.*237T>A (FANCL) XP_011531247.1:n.*237T>A
XM_011533092.1:c.*118A>T (VRK2) XP_011531394.1:n.*118A>T
XM_011533092.3:c.*118A>T (VRK2) XP_011531394.1:n.*118A>T
XM_011533093.1:c.*118A>T (VRK2) XP_011531395.1:n.*118A>T
XM_011533094.1:c.*118A>T (VRK2) XP_011531396.1:n.*118A>T
XM_017004414.2:c.1138-11T>A (FANCL) XP_016859903.1:n.1138-11T>A
XM_017004416.1:c.*237T>A (FANCL) XP_016859905.1:n.*237T>A
XM_017004858.2:c.*495A>T (VRK2) XP_016860347.1:n.*495A>T
XM_017004859.2:c.*118A>T (VRK2) XP_016860348.1:n.*118A>T
XM_017004860.2:c.*118A>T (VRK2) XP_016860349.1:n.*118A>T
XM_017004861.2:c.*118A>T (VRK2) XP_016860350.1:n.*118A>T
XM_017004862.2:c.*118A>T (VRK2) XP_016860351.1:n.*118A>T
XM_017004863.2:c.*118A>T (VRK2) XP_016860352.1:n.*118A>T
XM_017004864.2:c.*495A>T (VRK2) XP_016860353.1:n.*495A>T
XM_017004865.1:c.*503A>T (VRK2) XP_016860354.1:n.*503A>T
XM_017004866.1:c.*503A>T (VRK2) XP_016860355.1:n.*503A>T
XR_001738802.2:n.1039-11T>A (FANCL)
XR_001738803.2:n.1024-11T>A (FANCL)
XR_002959309.1:n.1735-11T>A (FANCL)
XR_939692.1:n.1092-11T>A (FANCL)
XR_939692.2:n.1084-11T>A (FANCL)