Canonical Allele Identifier: CA426173779

Gene: FANCL VRK2

Linked Data

• MyVariant Identifiers: chr2:g.58387297T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58160162T>G , CM000664.2:g.58160162T>G	GRCh38
NC_000002.11:g.58387297T>G , CM000664.1:g.58387297T>G	GRCh37
NC_000002.10:g.58240801T>G	NCBI36
NG_007418.1:g.86218A>C , LRG_501:g.86218A>C
NG_029717.2:g.257422T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.1053A>C (FANCL)	ENSP00000385021.3:p.Leu351=
ENST00000403295.8:c.954A>C (FANCL)	ENSP00000386097.3:p.Leu318=
ENST00000403676.6:c.*601A>C (FANCL)	ENSP00000384046.2:n.*601A>C
ENST00000417361.2:c.*616A>C (FANCL)	ENSP00000389448.2:n.*616A>C
ENST00000427708.7:c.1083A>C (FANCL)	ENSP00000400969.3:p.Leu361=
ENST00000446381.6:c.594A>C (FANCL)	ENSP00000390991.2:p.Leu198=
ENST00000449070.6:c.861A>C (FANCL)	ENSP00000401280.2:p.Leu287=
ENST00000470506.2:n.1552A>C (FANCL)
ENST00000696305.1:c.981A>C (FANCL)	ENSP00000512543.1:p.Leu327=
ENST00000696306.1:c.*928A>C (FANCL)	ENSP00000512544.1:n.*928A>C
ENST00000696307.1:c.1023A>C (FANCL)	ENSP00000512545.1:p.Leu341=
ENST00000696314.1:c.*91A>C (FANCL)	ENSP00000512552.1:n.*91A>C
ENST00000696315.1:c.*601A>C (FANCL)	ENSP00000512553.1:n.*601A>C
ENST00000696316.1:c.921A>C (FANCL)	ENSP00000512554.1:p.Leu307=
ENST00000696317.1:c.*11A>C (FANCL)	ENSP00000512555.1:n.*11A>C
ENST00000696318.1:c.*91A>C (FANCL)	ENSP00000512556.1:n.*91A>C
ENST00000696319.1:c.996A>C (FANCL)	ENSP00000512557.1:p.Leu332=
ENST00000696320.1:n.2717A>C (FANCL)
ENST00000696324.1:c.*488A>C (FANCL)	ENSP00000512561.1:n.*488A>C
ENST00000696325.1:n.4121A>C (FANCL)
ENST00000696326.1:c.1098A>C (FANCL)	ENSP00000512562.1:p.Leu366=
ENST00000696338.1:n.1152A>C (FANCL)
ENST00000696339.1:n.2610A>C (FANCL)
ENST00000696340.1:n.3264A>C (FANCL)
ENST00000696341.1:n.1546A>C (FANCL)
ENST00000696342.1:c.*2268A>C (FANCL)	ENSP00000512569.1:n.*2268A>C
ENST00000696343.1:n.2897A>C (FANCL)
ENST00000696344.1:c.*752A>C (FANCL)	ENSP00000512570.1:n.*752A>C
ENST00000696358.1:n.3711A>C (FANCL)
ENST00000696359.1:n.3388A>C (FANCL)
ENST00000696360.1:n.1823A>C (FANCL)
ENST00000696361.1:c.*1041A>C (FANCL)	ENSP00000512579.1:n.*1041A>C
ENST00000696362.1:c.*488A>C (FANCL)	ENSP00000512580.1:n.*488A>C
ENST00000696363.1:n.2815A>C (FANCL)
ENST00000696364.1:n.1431A>C (FANCL)
ENST00000696371.1:c.1029A>C (FANCL)	ENSP00000512586.1:p.Leu343=
ENST00000696372.1:n.2127A>C (FANCL)
ENST00000696373.1:c.*2268A>C (FANCL)	ENSP00000512587.1:n.*2268A>C
ENST00000696374.1:c.*406A>C (FANCL)	ENSP00000512588.1:n.*406A>C
ENST00000696375.1:n.7971A>C (FANCL)
ENST00000696376.1:n.6824A>C (FANCL)
ENST00000696378.1:c.*1056A>C (FANCL)	ENSP00000512589.1:n.*1056A>C
ENST00000696394.1:n.4540A>C (FANCL)
ENST00000696395.1:n.4479A>C (FANCL)
ENST00000696396.1:n.2192A>C (FANCL)
ENST00000696397.1:n.3163A>C (FANCL)
ENST00000696398.1:c.*185A>C (FANCL)	ENSP00000512604.1:n.*185A>C
ENST00000696399.1:n.2312A>C (FANCL)
ENST00000696400.1:c.*802A>C (FANCL)	ENSP00000512605.1:n.*802A>C
ENST00000696409.1:c.*555A>C (FANCL)	ENSP00000512610.1:n.*555A>C
ENST00000696410.1:c.*519A>C (FANCL)	ENSP00000512611.1:n.*519A>C
ENST00000696411.1:n.743A>C (FANCL)
ENST00000696412.1:n.1537A>C (FANCL)
ENST00000696413.1:n.1040A>C (FANCL)
ENST00000696414.1:n.2084A>C (FANCL)
ENST00000696415.1:c.*11A>C (FANCL)	ENSP00000512612.1:n.*11A>C
ENST00000696416.1:n.1046A>C (FANCL)
ENST00000696432.1:n.3497A>C (FANCL)
ENST00000696433.1:c.*91A>C (FANCL)	ENSP00000512627.1:n.*91A>C
ENST00000696434.1:c.876A>C (FANCL)	ENSP00000512628.1:p.Leu292=
ENST00000696435.1:c.*185A>C (FANCL)	ENSP00000512629.1:n.*185A>C
ENST00000696436.1:n.992A>C (FANCL)
ENST00000696437.1:n.1455A>C (FANCL)
ENST00000696438.1:c.*871A>C (FANCL)	ENSP00000512630.1:n.*871A>C
ENST00000696439.1:n.3087A>C (FANCL)
ENST00000696440.1:n.2074A>C (FANCL)
ENST00000696454.1:c.*389A>C (FANCL)	ENSP00000512641.1:n.*389A>C
ENST00000696455.1:c.*91A>C (FANCL)	ENSP00000512642.1:n.*91A>C
ENST00000696456.1:n.548A>C (FANCL)
ENST00000696457.1:c.*1809A>C (FANCL)	ENSP00000512643.1:n.*1809A>C
ENST00000696458.1:c.*11A>C (FANCL)	ENSP00000512644.1:n.*11A>C
ENST00000696459.1:c.*473A>C (FANCL)	ENSP00000512645.1:n.*473A>C
ENST00000696460.1:n.1535A>C (FANCL)
ENST00000696467.1:c.*534A>C (FANCL)	ENSP00000512648.1:n.*534A>C
ENST00000696468.1:c.*530A>C (FANCL)	ENSP00000512649.1:n.*530A>C
ENST00000696469.1:c.*185A>C (FANCL)	ENSP00000512650.1:n.*185A>C
ENST00000696470.1:n.3206A>C (FANCL)
ENST00000696471.1:n.708A>C (FANCL)
ENST00000696472.1:c.*91A>C (FANCL)	ENSP00000512651.1:n.*91A>C
ENST00000696473.1:c.*721A>C (FANCL)	ENSP00000512652.1:n.*721A>C
ENST00000696474.1:n.914A>C (FANCL)
ENST00000696475.1:n.2546A>C (FANCL)
ENST00000696492.1:c.*703A>C (FANCL)	ENSP00000512662.1:n.*703A>C
ENST00000696493.1:c.*886A>C (FANCL)	ENSP00000512663.1:n.*886A>C
ENST00000696494.1:n.1070A>C (FANCL)
ENST00000696495.1:c.*784A>C (FANCL)	ENSP00000512664.1:n.*784A>C
ENST00000696496.1:n.1577A>C (FANCL)
ENST00000696497.1:n.4335A>C (FANCL)
ENST00000696498.1:n.1797A>C (FANCL)
ENST00000696499.1:c.*475A>C (FANCL)	ENSP00000512665.1:n.*475A>C
ENST00000696508.1:c.*593A>C (FANCL)	ENSP00000512674.1:n.*593A>C
ENST00000696509.1:c.*915A>C (FANCL)	ENSP00000512675.1:n.*915A>C
ENST00000696510.1:c.510A>C (FANCL)	ENSP00000512676.1:p.Leu170=
ENST00000696527.1:c.*91A>C (FANCL)	ENSP00000512690.1:n.*91A>C
ENST00000696528.1:c.*91A>C (FANCL)	ENSP00000512691.1:n.*91A>C
ENST00000696529.1:n.901A>C (FANCL)
ENST00000696530.1:c.834A>C (FANCL)	ENSP00000512692.1:p.Leu278=
ENST00000696531.1:c.*570A>C (FANCL)	ENSP00000512693.1:n.*570A>C
ENST00000696532.1:n.2185A>C (FANCL)
ENST00000696542.1:n.976A>C (FANCL)
ENST00000696543.1:c.*91A>C (FANCL)	ENSP00000512703.1:n.*91A>C
ENST00000696544.1:c.*91A>C (FANCL)	ENSP00000512704.1:n.*91A>C
ENST00000696545.1:c.*706A>C (FANCL)	ENSP00000512705.1:n.*706A>C
ENST00000696546.1:c.*817A>C (FANCL)	ENSP00000512706.1:n.*817A>C
ENST00000696547.1:c.1026A>C (FANCL)	ENSP00000512707.1:p.Leu342=
ENST00000696548.1:c.*1242A>C (FANCL)	ENSP00000512708.1:n.*1242A>C
ENST00000696564.1:c.*91A>C (FANCL)	ENSP00000512722.1:n.*91A>C
ENST00000696565.1:c.*91A>C (FANCL)	ENSP00000512723.1:n.*91A>C
ENST00000696566.1:n.3626A>C (FANCL)
ENST00000696567.1:c.933A>C (FANCL)	ENSP00000512724.1:p.Leu311=
ENST00000696568.1:n.464A>C (FANCL)
ENST00000696569.1:n.1147A>C (FANCL)
ENST00000696570.1:c.*360A>C (FANCL)	ENSP00000512725.1:n.*360A>C
ENST00000696619.1:n.2594A>C (FANCL)
ENST00000696620.1:c.630A>C (FANCL)	ENSP00000512759.1:p.Leu210=
ENST00000696621.1:c.*185A>C (FANCL)	ENSP00000512760.1:n.*185A>C
ENST00000696622.1:n.2769A>C (FANCL)
ENST00000696623.1:n.1004A>C (FANCL)
ENST00000696624.1:c.969A>C (FANCL)	ENSP00000512761.1:p.Leu323=
ENST00000696625.1:c.*488A>C (FANCL)	ENSP00000512762.1:n.*488A>C
ENST00000696634.1:c.751A>C (FANCL)	ENSP00000512770.1:n.751A>C
ENST00000696635.1:c.1014A>C (FANCL)	ENSP00000512771.1:p.Leu338=
ENST00000696636.1:n.3490A>C (FANCL)
ENST00000696637.1:n.8111A>C (FANCL)
ENST00000696638.1:n.1053A>C (FANCL)
ENST00000696639.1:n.3116A>C (FANCL)
ENST00000233741.9:c.1038A>C (FANCL) MANE Select	ENSP00000233741.5:p.Leu346=
ENST00000233741.8:c.1038A>C (FANCL)	ENSP00000233741.4:p.Leu346=
ENST00000402135.7:c.1053A>C (FANCL)	ENSP00000385021.3:p.Leu351=
ENST00000403295.7:c.954A>C (FANCL)	ENSP00000386097.3:p.Leu318=
ENST00000403676.5:c.687A>C (FANCL)	ENSP00000384046.1:p.Leu229=
ENST00000449070.5:c.861A>C (FANCL)	ENSP00000401280.1:p.Leu287=
NM_001114636.1:c.1053A>C , LRG_501t1:c.1053A>C (FANCL)	NP_001108108.1:p.Leu351=
NM_018062.3:c.1038A>C , LRG_501t2:c.1038A>C (FANCL)	NP_060532.2:p.Leu346=
XM_005264395.2:c.1038A>C (FANCL)	XP_005264452.1:p.Leu346=
XM_005264397.3:c.687A>C (FANCL)	XP_005264454.1:p.Leu229=
XM_011532939.1:c.1098A>C (FANCL)	XP_011531241.1:p.Leu366=
XM_011532940.1:c.1083A>C (FANCL)	XP_011531242.1:p.Leu361=
XM_011532941.1:c.1098A>C (FANCL)	XP_011531243.1:p.Leu366=
XM_011532942.1:c.1053A>C (FANCL)	XP_011531244.1:p.Leu351=
XM_011532943.1:c.1299A>C (FANCL)	XP_011531245.1:p.Leu433=
XM_011532944.1:c.747A>C (FANCL)	XP_011531246.1:p.Leu249=
XM_011532945.1:c.702A>C (FANCL)	XP_011531247.1:p.Leu234=
XR_939692.1:n.1037A>C (FANCL)
NR_156742.1:n.827A>C (FANCL)
XM_005264395.4:c.1038A>C (FANCL)	XP_005264452.1:p.Leu346=
XM_005264540.4:c.*469T>G (VRK2)	XP_005264597.1:n.*469T>G
XM_006712090.4:c.*846T>G (VRK2)	XP_006712153.1:n.*846T>G
XM_006712092.4:c.*469T>G (VRK2)	XP_006712155.1:n.*469T>G
XM_006712093.4:c.*469T>G (VRK2)	XP_006712156.1:n.*469T>G
XM_011532939.3:c.1098A>C (FANCL)	XP_011531241.1:p.Leu366=
XM_011532940.3:c.1083A>C (FANCL)	XP_011531242.1:p.Leu361=
XM_011532941.2:c.1098A>C (FANCL)	XP_011531243.1:p.Leu366=
XM_011532942.3:c.1053A>C (FANCL)	XP_011531244.1:p.Leu351=
XM_011532944.2:c.747A>C (FANCL)	XP_011531246.1:p.Leu249=
XM_011532945.2:c.702A>C (FANCL)	XP_011531247.1:p.Leu234=
XM_011533092.3:c.*469T>G (VRK2)	XP_011531394.1:n.*469T>G
XM_017004414.2:c.1083A>C (FANCL)	XP_016859903.1:p.Leu361=
XM_017004416.1:c.687A>C (FANCL)	XP_016859905.1:p.Leu229=
XM_017004858.2:c.*846T>G (VRK2)	XP_016860347.1:n.*846T>G
XM_017004859.2:c.*469T>G (VRK2)	XP_016860348.1:n.*469T>G
XM_017004860.2:c.*469T>G (VRK2)	XP_016860349.1:n.*469T>G
XM_017004861.2:c.*469T>G (VRK2)	XP_016860350.1:n.*469T>G
XM_017004862.2:c.*469T>G (VRK2)	XP_016860351.1:n.*469T>G
XM_017004863.2:c.*469T>G (VRK2)	XP_016860352.1:n.*469T>G
XM_017004864.2:c.*846T>G (VRK2)	XP_016860353.1:n.*846T>G
XM_017004865.1:c.*854T>G (VRK2)	XP_016860354.1:n.*854T>G
XM_017004866.1:c.*854T>G (VRK2)	XP_016860355.1:n.*854T>G
XR_001738802.2:n.984A>C (FANCL)
XR_001738803.2:n.969A>C (FANCL)
XR_002959309.1:n.1680A>C (FANCL)
XR_939692.2:n.1029A>C (FANCL)
NM_001374615.1:c.1083A>C (FANCL)	NP_001361544.1:p.Leu361=
NM_018062.4:c.1038A>C (FANCL) MANE Select	NP_060532.2:p.Leu346=
NR_164659.1:n.919A>C (FANCL)