Canonical Allele Identifier: CA346931123

Gene: FANCL VRK2

Linked Data

• MyVariant Identifiers: chr2:g.58387278T>G (hg19) ; chr2:g.58160143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58160143T>G , CM000664.2:g.58160143T>G	GRCh38
NC_000002.11:g.58387278T>G , CM000664.1:g.58387278T>G	GRCh37
NC_000002.10:g.58240782T>G	NCBI36
NG_007418.1:g.86237A>C , LRG_501:g.86237A>C
NG_029717.2:g.257403T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.1072A>C (FANCL)	ENSP00000385021.3:p.Asn358His
ENST00000403295.8:c.973A>C (FANCL)	ENSP00000386097.3:p.Asn325His
ENST00000403676.6:c.*620A>C (FANCL)	ENSP00000384046.2:n.*620A>C
ENST00000417361.2:c.*635A>C (FANCL)	ENSP00000389448.2:n.*635A>C
ENST00000427708.7:c.1102A>C (FANCL)	ENSP00000400969.3:p.Asn368His
ENST00000446381.6:c.613A>C (FANCL)	ENSP00000390991.2:p.Asn205His
ENST00000449070.6:c.880A>C (FANCL)	ENSP00000401280.2:p.Asn294His
ENST00000470506.2:n.1571A>C (FANCL)
ENST00000696305.1:c.1000A>C (FANCL)	ENSP00000512543.1:p.Asn334His
ENST00000696306.1:c.*947A>C (FANCL)	ENSP00000512544.1:n.*947A>C
ENST00000696307.1:c.1042A>C (FANCL)	ENSP00000512545.1:p.Asn348His
ENST00000696314.1:c.*110A>C (FANCL)	ENSP00000512552.1:n.*110A>C
ENST00000696315.1:c.*620A>C (FANCL)	ENSP00000512553.1:n.*620A>C
ENST00000696316.1:c.940A>C (FANCL)	ENSP00000512554.1:p.Asn314His
ENST00000696317.1:c.*30A>C (FANCL)	ENSP00000512555.1:n.*30A>C
ENST00000696318.1:c.*110A>C (FANCL)	ENSP00000512556.1:n.*110A>C
ENST00000696319.1:c.1015A>C (FANCL)	ENSP00000512557.1:p.Asn339His
ENST00000696320.1:n.2736A>C (FANCL)
ENST00000696324.1:c.*507A>C (FANCL)	ENSP00000512561.1:n.*507A>C
ENST00000696325.1:n.4140A>C (FANCL)
ENST00000696326.1:c.1117A>C (FANCL)	ENSP00000512562.1:p.Asn373His
ENST00000696338.1:n.1171A>C (FANCL)
ENST00000696339.1:n.2629A>C (FANCL)
ENST00000696340.1:n.3283A>C (FANCL)
ENST00000696341.1:n.1565A>C (FANCL)
ENST00000696342.1:c.*2287A>C (FANCL)	ENSP00000512569.1:n.*2287A>C
ENST00000696343.1:n.2916A>C (FANCL)
ENST00000696344.1:c.*771A>C (FANCL)	ENSP00000512570.1:n.*771A>C
ENST00000696358.1:n.3730A>C (FANCL)
ENST00000696359.1:n.3407A>C (FANCL)
ENST00000696360.1:n.1842A>C (FANCL)
ENST00000696361.1:c.*1060A>C (FANCL)	ENSP00000512579.1:n.*1060A>C
ENST00000696362.1:c.*507A>C (FANCL)	ENSP00000512580.1:n.*507A>C
ENST00000696363.1:n.2834A>C (FANCL)
ENST00000696364.1:n.1450A>C (FANCL)
ENST00000696371.1:c.1048A>C (FANCL)	ENSP00000512586.1:p.Asn350His
ENST00000696372.1:n.2146A>C (FANCL)
ENST00000696373.1:c.*2287A>C (FANCL)	ENSP00000512587.1:n.*2287A>C
ENST00000696374.1:c.*425A>C (FANCL)	ENSP00000512588.1:n.*425A>C
ENST00000696375.1:n.7990A>C (FANCL)
ENST00000696376.1:n.6843A>C (FANCL)
ENST00000696378.1:c.*1075A>C (FANCL)	ENSP00000512589.1:n.*1075A>C
ENST00000696394.1:n.4559A>C (FANCL)
ENST00000696395.1:n.4498A>C (FANCL)
ENST00000696396.1:n.2211A>C (FANCL)
ENST00000696397.1:n.3182A>C (FANCL)
ENST00000696398.1:c.*204A>C (FANCL)	ENSP00000512604.1:n.*204A>C
ENST00000696399.1:n.2331A>C (FANCL)
ENST00000696400.1:c.*821A>C (FANCL)	ENSP00000512605.1:n.*821A>C
ENST00000696409.1:c.*574A>C (FANCL)	ENSP00000512610.1:n.*574A>C
ENST00000696410.1:c.*538A>C (FANCL)	ENSP00000512611.1:n.*538A>C
ENST00000696411.1:n.762A>C (FANCL)
ENST00000696412.1:n.1556A>C (FANCL)
ENST00000696413.1:n.1059A>C (FANCL)
ENST00000696414.1:n.2103A>C (FANCL)
ENST00000696415.1:c.*30A>C (FANCL)	ENSP00000512612.1:n.*30A>C
ENST00000696416.1:n.1065A>C (FANCL)
ENST00000696432.1:n.3516A>C (FANCL)
ENST00000696433.1:c.*110A>C (FANCL)	ENSP00000512627.1:n.*110A>C
ENST00000696434.1:c.895A>C (FANCL)	ENSP00000512628.1:p.Asn299His
ENST00000696435.1:c.*204A>C (FANCL)	ENSP00000512629.1:n.*204A>C
ENST00000696436.1:n.1011A>C (FANCL)
ENST00000696437.1:n.1474A>C (FANCL)
ENST00000696438.1:c.*890A>C (FANCL)	ENSP00000512630.1:n.*890A>C
ENST00000696439.1:n.3106A>C (FANCL)
ENST00000696440.1:n.2093A>C (FANCL)
ENST00000696454.1:c.*408A>C (FANCL)	ENSP00000512641.1:n.*408A>C
ENST00000696455.1:c.*110A>C (FANCL)	ENSP00000512642.1:n.*110A>C
ENST00000696456.1:n.567A>C (FANCL)
ENST00000696457.1:c.*1828A>C (FANCL)	ENSP00000512643.1:n.*1828A>C
ENST00000696458.1:c.*30A>C (FANCL)	ENSP00000512644.1:n.*30A>C
ENST00000696459.1:c.*492A>C (FANCL)	ENSP00000512645.1:n.*492A>C
ENST00000696460.1:n.1554A>C (FANCL)
ENST00000696467.1:c.*553A>C (FANCL)	ENSP00000512648.1:n.*553A>C
ENST00000696468.1:c.*549A>C (FANCL)	ENSP00000512649.1:n.*549A>C
ENST00000696469.1:c.*204A>C (FANCL)	ENSP00000512650.1:n.*204A>C
ENST00000696470.1:n.3225A>C (FANCL)
ENST00000696471.1:n.727A>C (FANCL)
ENST00000696472.1:c.*110A>C (FANCL)	ENSP00000512651.1:n.*110A>C
ENST00000696473.1:c.*740A>C (FANCL)	ENSP00000512652.1:n.*740A>C
ENST00000696474.1:n.933A>C (FANCL)
ENST00000696475.1:n.2565A>C (FANCL)
ENST00000696492.1:c.*722A>C (FANCL)	ENSP00000512662.1:n.*722A>C
ENST00000696493.1:c.*905A>C (FANCL)	ENSP00000512663.1:n.*905A>C
ENST00000696494.1:n.1089A>C (FANCL)
ENST00000696495.1:c.*803A>C (FANCL)	ENSP00000512664.1:n.*803A>C
ENST00000696496.1:n.1596A>C (FANCL)
ENST00000696497.1:n.4354A>C (FANCL)
ENST00000696498.1:n.1816A>C (FANCL)
ENST00000696499.1:c.*494A>C (FANCL)	ENSP00000512665.1:n.*494A>C
ENST00000696508.1:c.*612A>C (FANCL)	ENSP00000512674.1:n.*612A>C
ENST00000696509.1:c.*934A>C (FANCL)	ENSP00000512675.1:n.*934A>C
ENST00000696510.1:c.529A>C (FANCL)	ENSP00000512676.1:p.Asn177His
ENST00000696527.1:c.*110A>C (FANCL)	ENSP00000512690.1:n.*110A>C
ENST00000696528.1:c.*110A>C (FANCL)	ENSP00000512691.1:n.*110A>C
ENST00000696529.1:n.920A>C (FANCL)
ENST00000696530.1:c.853A>C (FANCL)	ENSP00000512692.1:p.Asn285His
ENST00000696531.1:c.*589A>C (FANCL)	ENSP00000512693.1:n.*589A>C
ENST00000696532.1:n.2204A>C (FANCL)
ENST00000696542.1:n.995A>C (FANCL)
ENST00000696543.1:c.*110A>C (FANCL)	ENSP00000512703.1:n.*110A>C
ENST00000696544.1:c.*110A>C (FANCL)	ENSP00000512704.1:n.*110A>C
ENST00000696545.1:c.*725A>C (FANCL)	ENSP00000512705.1:n.*725A>C
ENST00000696546.1:c.*836A>C (FANCL)	ENSP00000512706.1:n.*836A>C
ENST00000696547.1:c.1045A>C (FANCL)	ENSP00000512707.1:p.Asn349His
ENST00000696548.1:c.*1261A>C (FANCL)	ENSP00000512708.1:n.*1261A>C
ENST00000696564.1:c.*110A>C (FANCL)	ENSP00000512722.1:n.*110A>C
ENST00000696565.1:c.*110A>C (FANCL)	ENSP00000512723.1:n.*110A>C
ENST00000696566.1:n.3645A>C (FANCL)
ENST00000696567.1:c.952A>C (FANCL)	ENSP00000512724.1:p.Asn318His
ENST00000696568.1:n.483A>C (FANCL)
ENST00000696569.1:n.1166A>C (FANCL)
ENST00000696570.1:c.*379A>C (FANCL)	ENSP00000512725.1:n.*379A>C
ENST00000696619.1:n.2613A>C (FANCL)
ENST00000696620.1:c.649A>C (FANCL)	ENSP00000512759.1:p.Asn217His
ENST00000696621.1:c.*204A>C (FANCL)	ENSP00000512760.1:n.*204A>C
ENST00000696622.1:n.2788A>C (FANCL)
ENST00000696623.1:n.1023A>C (FANCL)
ENST00000696624.1:c.988A>C (FANCL)	ENSP00000512761.1:p.Asn330His
ENST00000696625.1:c.*507A>C (FANCL)	ENSP00000512762.1:n.*507A>C
ENST00000696634.1:c.770A>C (FANCL)	ENSP00000512770.1:n.770A>C
ENST00000696635.1:c.1033A>C (FANCL)	ENSP00000512771.1:p.Asn345His
ENST00000696636.1:n.3509A>C (FANCL)
ENST00000696637.1:n.8130A>C (FANCL)
ENST00000696638.1:n.1072A>C (FANCL)
ENST00000696639.1:n.3135A>C (FANCL)
ENST00000233741.9:c.1057A>C (FANCL) MANE Select	ENSP00000233741.5:p.Asn353His
ENST00000233741.8:c.1057A>C (FANCL)	ENSP00000233741.4:p.Asn353His
ENST00000402135.7:c.1072A>C (FANCL)	ENSP00000385021.3:p.Asn358His
ENST00000403295.7:c.973A>C (FANCL)	ENSP00000386097.3:p.Asn325His
ENST00000403676.5:c.706A>C (FANCL)	ENSP00000384046.1:p.Asn236His
ENST00000449070.5:c.880A>C (FANCL)	ENSP00000401280.1:p.Asn294His
NM_001114636.1:c.1072A>C , LRG_501t1:c.1072A>C (FANCL)	NP_001108108.1:p.Asn358His
NM_018062.3:c.1057A>C , LRG_501t2:c.1057A>C (FANCL)	NP_060532.2:p.Asn353His
XM_005264395.2:c.1057A>C (FANCL)	XP_005264452.1:p.Asn353His
XM_005264397.3:c.706A>C (FANCL)	XP_005264454.1:p.Asn236His
XM_011532939.1:c.1117A>C (FANCL)	XP_011531241.1:p.Asn373His
XM_011532940.1:c.1102A>C (FANCL)	XP_011531242.1:p.Asn368His
XM_011532941.1:c.1117A>C (FANCL)	XP_011531243.1:p.Asn373His
XM_011532942.1:c.1072A>C (FANCL)	XP_011531244.1:p.Asn358His
XM_011532943.1:c.1318A>C (FANCL)	XP_011531245.1:p.Asn440His
XM_011532944.1:c.766A>C (FANCL)	XP_011531246.1:p.Asn256His
XM_011532945.1:c.721A>C (FANCL)	XP_011531247.1:p.Asn241His
XR_939692.1:n.1056A>C (FANCL)
NR_156742.1:n.846A>C (FANCL)
XM_005264395.4:c.1057A>C (FANCL)	XP_005264452.1:p.Asn353His
XM_005264540.4:c.*450T>G (VRK2)	XP_005264597.1:n.*450T>G
XM_006712090.4:c.*827T>G (VRK2)	XP_006712153.1:n.*827T>G
XM_006712092.4:c.*450T>G (VRK2)	XP_006712155.1:n.*450T>G
XM_006712093.4:c.*450T>G (VRK2)	XP_006712156.1:n.*450T>G
XM_011532939.3:c.1117A>C (FANCL)	XP_011531241.1:p.Asn373His
XM_011532940.3:c.1102A>C (FANCL)	XP_011531242.1:p.Asn368His
XM_011532941.2:c.1117A>C (FANCL)	XP_011531243.1:p.Asn373His
XM_011532942.3:c.1072A>C (FANCL)	XP_011531244.1:p.Asn358His
XM_011532944.2:c.766A>C (FANCL)	XP_011531246.1:p.Asn256His
XM_011532945.2:c.721A>C (FANCL)	XP_011531247.1:p.Asn241His
XM_011533092.3:c.*450T>G (VRK2)	XP_011531394.1:n.*450T>G
XM_017004414.2:c.1102A>C (FANCL)	XP_016859903.1:p.Asn368His
XM_017004416.1:c.706A>C (FANCL)	XP_016859905.1:p.Asn236His
XM_017004858.2:c.*827T>G (VRK2)	XP_016860347.1:n.*827T>G
XM_017004859.2:c.*450T>G (VRK2)	XP_016860348.1:n.*450T>G
XM_017004860.2:c.*450T>G (VRK2)	XP_016860349.1:n.*450T>G
XM_017004861.2:c.*450T>G (VRK2)	XP_016860350.1:n.*450T>G
XM_017004862.2:c.*450T>G (VRK2)	XP_016860351.1:n.*450T>G
XM_017004863.2:c.*450T>G (VRK2)	XP_016860352.1:n.*450T>G
XM_017004864.2:c.*827T>G (VRK2)	XP_016860353.1:n.*827T>G
XM_017004865.1:c.*835T>G (VRK2)	XP_016860354.1:n.*835T>G
XM_017004866.1:c.*835T>G (VRK2)	XP_016860355.1:n.*835T>G
XR_001738802.2:n.1003A>C (FANCL)
XR_001738803.2:n.988A>C (FANCL)
XR_002959309.1:n.1699A>C (FANCL)
XR_939692.2:n.1048A>C (FANCL)
NM_001374615.1:c.1102A>C (FANCL)	NP_001361544.1:p.Asn368His
NM_018062.4:c.1057A>C (FANCL) MANE Select	NP_060532.2:p.Asn353His
NR_164659.1:n.938A>C (FANCL)