Canonical Allele Identifier: CA426173786

Gene: FANCL VRK2

Linked Data

• MyVariant Identifiers: chr2:g.58387300T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58160165T>G , CM000664.2:g.58160165T>G	GRCh38
NC_000002.11:g.58387300T>G , CM000664.1:g.58387300T>G	GRCh37
NC_000002.10:g.58240804T>G	NCBI36
NG_007418.1:g.86215A>C , LRG_501:g.86215A>C
NG_029717.2:g.257425T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.1050A>C (FANCL)	ENSP00000385021.3:p.Leu350=
ENST00000403295.8:c.951A>C (FANCL)	ENSP00000386097.3:p.Leu317=
ENST00000403676.6:c.*598A>C (FANCL)	ENSP00000384046.2:n.*598A>C
ENST00000417361.2:c.*613A>C (FANCL)	ENSP00000389448.2:n.*613A>C
ENST00000427708.7:c.1080A>C (FANCL)	ENSP00000400969.3:p.Leu360=
ENST00000446381.6:c.591A>C (FANCL)	ENSP00000390991.2:p.Leu197=
ENST00000449070.6:c.858A>C (FANCL)	ENSP00000401280.2:p.Leu286=
ENST00000470506.2:n.1549A>C (FANCL)
ENST00000696305.1:c.978A>C (FANCL)	ENSP00000512543.1:p.Leu326=
ENST00000696306.1:c.*925A>C (FANCL)	ENSP00000512544.1:n.*925A>C
ENST00000696307.1:c.1020A>C (FANCL)	ENSP00000512545.1:p.Leu340=
ENST00000696314.1:c.*88A>C (FANCL)	ENSP00000512552.1:n.*88A>C
ENST00000696315.1:c.*598A>C (FANCL)	ENSP00000512553.1:n.*598A>C
ENST00000696316.1:c.918A>C (FANCL)	ENSP00000512554.1:p.Leu306=
ENST00000696317.1:c.*8A>C (FANCL)	ENSP00000512555.1:n.*8A>C
ENST00000696318.1:c.*88A>C (FANCL)	ENSP00000512556.1:n.*88A>C
ENST00000696319.1:c.993A>C (FANCL)	ENSP00000512557.1:p.Leu331=
ENST00000696320.1:n.2714A>C (FANCL)
ENST00000696324.1:c.*485A>C (FANCL)	ENSP00000512561.1:n.*485A>C
ENST00000696325.1:n.4118A>C (FANCL)
ENST00000696326.1:c.1095A>C (FANCL)	ENSP00000512562.1:p.Leu365=
ENST00000696338.1:n.1149A>C (FANCL)
ENST00000696339.1:n.2607A>C (FANCL)
ENST00000696340.1:n.3261A>C (FANCL)
ENST00000696341.1:n.1543A>C (FANCL)
ENST00000696342.1:c.*2265A>C (FANCL)	ENSP00000512569.1:n.*2265A>C
ENST00000696343.1:n.2894A>C (FANCL)
ENST00000696344.1:c.*749A>C (FANCL)	ENSP00000512570.1:n.*749A>C
ENST00000696358.1:n.3708A>C (FANCL)
ENST00000696359.1:n.3385A>C (FANCL)
ENST00000696360.1:n.1820A>C (FANCL)
ENST00000696361.1:c.*1038A>C (FANCL)	ENSP00000512579.1:n.*1038A>C
ENST00000696362.1:c.*485A>C (FANCL)	ENSP00000512580.1:n.*485A>C
ENST00000696363.1:n.2812A>C (FANCL)
ENST00000696364.1:n.1428A>C (FANCL)
ENST00000696371.1:c.1026A>C (FANCL)	ENSP00000512586.1:p.Leu342=
ENST00000696372.1:n.2124A>C (FANCL)
ENST00000696373.1:c.*2265A>C (FANCL)	ENSP00000512587.1:n.*2265A>C
ENST00000696374.1:c.*403A>C (FANCL)	ENSP00000512588.1:n.*403A>C
ENST00000696375.1:n.7968A>C (FANCL)
ENST00000696376.1:n.6821A>C (FANCL)
ENST00000696378.1:c.*1053A>C (FANCL)	ENSP00000512589.1:n.*1053A>C
ENST00000696394.1:n.4537A>C (FANCL)
ENST00000696395.1:n.4476A>C (FANCL)
ENST00000696396.1:n.2189A>C (FANCL)
ENST00000696397.1:n.3160A>C (FANCL)
ENST00000696398.1:c.*182A>C (FANCL)	ENSP00000512604.1:n.*182A>C
ENST00000696399.1:n.2309A>C (FANCL)
ENST00000696400.1:c.*799A>C (FANCL)	ENSP00000512605.1:n.*799A>C
ENST00000696409.1:c.*552A>C (FANCL)	ENSP00000512610.1:n.*552A>C
ENST00000696410.1:c.*516A>C (FANCL)	ENSP00000512611.1:n.*516A>C
ENST00000696411.1:n.740A>C (FANCL)
ENST00000696412.1:n.1534A>C (FANCL)
ENST00000696413.1:n.1037A>C (FANCL)
ENST00000696414.1:n.2081A>C (FANCL)
ENST00000696415.1:c.*8A>C (FANCL)	ENSP00000512612.1:n.*8A>C
ENST00000696416.1:n.1043A>C (FANCL)
ENST00000696432.1:n.3494A>C (FANCL)
ENST00000696433.1:c.*88A>C (FANCL)	ENSP00000512627.1:n.*88A>C
ENST00000696434.1:c.873A>C (FANCL)	ENSP00000512628.1:p.Leu291=
ENST00000696435.1:c.*182A>C (FANCL)	ENSP00000512629.1:n.*182A>C
ENST00000696436.1:n.989A>C (FANCL)
ENST00000696437.1:n.1452A>C (FANCL)
ENST00000696438.1:c.*868A>C (FANCL)	ENSP00000512630.1:n.*868A>C
ENST00000696439.1:n.3084A>C (FANCL)
ENST00000696440.1:n.2071A>C (FANCL)
ENST00000696454.1:c.*386A>C (FANCL)	ENSP00000512641.1:n.*386A>C
ENST00000696455.1:c.*88A>C (FANCL)	ENSP00000512642.1:n.*88A>C
ENST00000696456.1:n.545A>C (FANCL)
ENST00000696457.1:c.*1806A>C (FANCL)	ENSP00000512643.1:n.*1806A>C
ENST00000696458.1:c.*8A>C (FANCL)	ENSP00000512644.1:n.*8A>C
ENST00000696459.1:c.*470A>C (FANCL)	ENSP00000512645.1:n.*470A>C
ENST00000696460.1:n.1532A>C (FANCL)
ENST00000696467.1:c.*531A>C (FANCL)	ENSP00000512648.1:n.*531A>C
ENST00000696468.1:c.*527A>C (FANCL)	ENSP00000512649.1:n.*527A>C
ENST00000696469.1:c.*182A>C (FANCL)	ENSP00000512650.1:n.*182A>C
ENST00000696470.1:n.3203A>C (FANCL)
ENST00000696471.1:n.705A>C (FANCL)
ENST00000696472.1:c.*88A>C (FANCL)	ENSP00000512651.1:n.*88A>C
ENST00000696473.1:c.*718A>C (FANCL)	ENSP00000512652.1:n.*718A>C
ENST00000696474.1:n.911A>C (FANCL)
ENST00000696475.1:n.2543A>C (FANCL)
ENST00000696492.1:c.*700A>C (FANCL)	ENSP00000512662.1:n.*700A>C
ENST00000696493.1:c.*883A>C (FANCL)	ENSP00000512663.1:n.*883A>C
ENST00000696494.1:n.1067A>C (FANCL)
ENST00000696495.1:c.*781A>C (FANCL)	ENSP00000512664.1:n.*781A>C
ENST00000696496.1:n.1574A>C (FANCL)
ENST00000696497.1:n.4332A>C (FANCL)
ENST00000696498.1:n.1794A>C (FANCL)
ENST00000696499.1:c.*472A>C (FANCL)	ENSP00000512665.1:n.*472A>C
ENST00000696508.1:c.*590A>C (FANCL)	ENSP00000512674.1:n.*590A>C
ENST00000696509.1:c.*912A>C (FANCL)	ENSP00000512675.1:n.*912A>C
ENST00000696510.1:c.507A>C (FANCL)	ENSP00000512676.1:p.Leu169=
ENST00000696527.1:c.*88A>C (FANCL)	ENSP00000512690.1:n.*88A>C
ENST00000696528.1:c.*88A>C (FANCL)	ENSP00000512691.1:n.*88A>C
ENST00000696529.1:n.898A>C (FANCL)
ENST00000696530.1:c.831A>C (FANCL)	ENSP00000512692.1:p.Leu277=
ENST00000696531.1:c.*567A>C (FANCL)	ENSP00000512693.1:n.*567A>C
ENST00000696532.1:n.2182A>C (FANCL)
ENST00000696542.1:n.973A>C (FANCL)
ENST00000696543.1:c.*88A>C (FANCL)	ENSP00000512703.1:n.*88A>C
ENST00000696544.1:c.*88A>C (FANCL)	ENSP00000512704.1:n.*88A>C
ENST00000696545.1:c.*703A>C (FANCL)	ENSP00000512705.1:n.*703A>C
ENST00000696546.1:c.*814A>C (FANCL)	ENSP00000512706.1:n.*814A>C
ENST00000696547.1:c.1023A>C (FANCL)	ENSP00000512707.1:p.Leu341=
ENST00000696548.1:c.*1239A>C (FANCL)	ENSP00000512708.1:n.*1239A>C
ENST00000696564.1:c.*88A>C (FANCL)	ENSP00000512722.1:n.*88A>C
ENST00000696565.1:c.*88A>C (FANCL)	ENSP00000512723.1:n.*88A>C
ENST00000696566.1:n.3623A>C (FANCL)
ENST00000696567.1:c.930A>C (FANCL)	ENSP00000512724.1:p.Leu310=
ENST00000696568.1:n.461A>C (FANCL)
ENST00000696569.1:n.1144A>C (FANCL)
ENST00000696570.1:c.*357A>C (FANCL)	ENSP00000512725.1:n.*357A>C
ENST00000696619.1:n.2591A>C (FANCL)
ENST00000696620.1:c.627A>C (FANCL)	ENSP00000512759.1:p.Leu209=
ENST00000696621.1:c.*182A>C (FANCL)	ENSP00000512760.1:n.*182A>C
ENST00000696622.1:n.2766A>C (FANCL)
ENST00000696623.1:n.1001A>C (FANCL)
ENST00000696624.1:c.966A>C (FANCL)	ENSP00000512761.1:p.Leu322=
ENST00000696625.1:c.*485A>C (FANCL)	ENSP00000512762.1:n.*485A>C
ENST00000696634.1:c.748A>C (FANCL)	ENSP00000512770.1:n.748A>C
ENST00000696635.1:c.1011A>C (FANCL)	ENSP00000512771.1:p.Leu337=
ENST00000696636.1:n.3487A>C (FANCL)
ENST00000696637.1:n.8108A>C (FANCL)
ENST00000696638.1:n.1050A>C (FANCL)
ENST00000696639.1:n.3113A>C (FANCL)
ENST00000233741.9:c.1035A>C (FANCL) MANE Select	ENSP00000233741.5:p.Leu345=
ENST00000233741.8:c.1035A>C (FANCL)	ENSP00000233741.4:p.Leu345=
ENST00000402135.7:c.1050A>C (FANCL)	ENSP00000385021.3:p.Leu350=
ENST00000403295.7:c.951A>C (FANCL)	ENSP00000386097.3:p.Leu317=
ENST00000403676.5:c.684A>C (FANCL)	ENSP00000384046.1:p.Leu228=
ENST00000449070.5:c.858A>C (FANCL)	ENSP00000401280.1:p.Leu286=
NM_001114636.1:c.1050A>C , LRG_501t1:c.1050A>C (FANCL)	NP_001108108.1:p.Leu350=
NM_018062.3:c.1035A>C , LRG_501t2:c.1035A>C (FANCL)	NP_060532.2:p.Leu345=
XM_005264395.2:c.1035A>C (FANCL)	XP_005264452.1:p.Leu345=
XM_005264397.3:c.684A>C (FANCL)	XP_005264454.1:p.Leu228=
XM_011532939.1:c.1095A>C (FANCL)	XP_011531241.1:p.Leu365=
XM_011532940.1:c.1080A>C (FANCL)	XP_011531242.1:p.Leu360=
XM_011532941.1:c.1095A>C (FANCL)	XP_011531243.1:p.Leu365=
XM_011532942.1:c.1050A>C (FANCL)	XP_011531244.1:p.Leu350=
XM_011532943.1:c.1296A>C (FANCL)	XP_011531245.1:p.Leu432=
XM_011532944.1:c.744A>C (FANCL)	XP_011531246.1:p.Leu248=
XM_011532945.1:c.699A>C (FANCL)	XP_011531247.1:p.Leu233=
XR_939692.1:n.1034A>C (FANCL)
NR_156742.1:n.824A>C (FANCL)
XM_005264395.4:c.1035A>C (FANCL)	XP_005264452.1:p.Leu345=
XM_005264540.4:c.*472T>G (VRK2)	XP_005264597.1:n.*472T>G
XM_006712090.4:c.*849T>G (VRK2)	XP_006712153.1:n.*849T>G
XM_006712092.4:c.*472T>G (VRK2)	XP_006712155.1:n.*472T>G
XM_006712093.4:c.*472T>G (VRK2)	XP_006712156.1:n.*472T>G
XM_011532939.3:c.1095A>C (FANCL)	XP_011531241.1:p.Leu365=
XM_011532940.3:c.1080A>C (FANCL)	XP_011531242.1:p.Leu360=
XM_011532941.2:c.1095A>C (FANCL)	XP_011531243.1:p.Leu365=
XM_011532942.3:c.1050A>C (FANCL)	XP_011531244.1:p.Leu350=
XM_011532944.2:c.744A>C (FANCL)	XP_011531246.1:p.Leu248=
XM_011532945.2:c.699A>C (FANCL)	XP_011531247.1:p.Leu233=
XM_011533092.3:c.*472T>G (VRK2)	XP_011531394.1:n.*472T>G
XM_017004414.2:c.1080A>C (FANCL)	XP_016859903.1:p.Leu360=
XM_017004416.1:c.684A>C (FANCL)	XP_016859905.1:p.Leu228=
XM_017004858.2:c.*849T>G (VRK2)	XP_016860347.1:n.*849T>G
XM_017004859.2:c.*472T>G (VRK2)	XP_016860348.1:n.*472T>G
XM_017004860.2:c.*472T>G (VRK2)	XP_016860349.1:n.*472T>G
XM_017004861.2:c.*472T>G (VRK2)	XP_016860350.1:n.*472T>G
XM_017004862.2:c.*472T>G (VRK2)	XP_016860351.1:n.*472T>G
XM_017004863.2:c.*472T>G (VRK2)	XP_016860352.1:n.*472T>G
XM_017004864.2:c.*849T>G (VRK2)	XP_016860353.1:n.*849T>G
XM_017004865.1:c.*857T>G (VRK2)	XP_016860354.1:n.*857T>G
XM_017004866.1:c.*857T>G (VRK2)	XP_016860355.1:n.*857T>G
XR_001738802.2:n.981A>C (FANCL)
XR_001738803.2:n.966A>C (FANCL)
XR_002959309.1:n.1677A>C (FANCL)
XR_939692.2:n.1026A>C (FANCL)
NM_001374615.1:c.1080A>C (FANCL)	NP_001361544.1:p.Leu360=
NM_018062.4:c.1035A>C (FANCL) MANE Select	NP_060532.2:p.Leu345=
NR_164659.1:n.916A>C (FANCL)