Canonical Allele Identifier: CA5720449
Community Standard Title: NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)
Gene: FGFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121479907C>T , CM000672.2:g.121479907C>T GRCh38
NC_000010.10:g.123239421C>T , CM000672.1:g.123239421C>T GRCh37
NC_000010.9:g.123229411C>T NCBI36
NG_012449.1:g.123552G>A
NG_012449.2:g.123552G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000141.5:c.2416G>A MANE Select NP_000132.3:p.Glu806Lys
ENST00000358487.10:c.2416G>A MANE Select ENSP00000351276.6:p.Glu806Lys
ENST00000457416.7:c.2419G>A MANE Plus Clinical ENSP00000410294.2:p.Glu807Lys
NM_000141.4:c.2416G>A NP_000132.3:p.Glu806Lys
NM_001144914.1:c.2080G>A NP_001138386.1:p.Glu694Lys
NM_001144915.1:c.2035-237G>A NP_001138387.1:n.2035-237G>A
NM_001144915.2:c.2035-237G>A NP_001138387.1:n.2035-237G>A
NM_001144916.1:c.2071G>A NP_001138388.1:p.Glu691Lys
NM_001144916.2:c.2071G>A NP_001138388.1:p.Glu691Lys
NM_001144917.1:c.2068G>A NP_001138389.1:p.Glu690Lys
NM_001144917.2:c.2068G>A NP_001138389.1:p.Glu690Lys
NM_001144918.1:c.2065G>A NP_001138390.1:p.Glu689Lys
NM_001144918.2:c.2065G>A NP_001138390.1:p.Glu689Lys
NM_001320654.1:c.1732G>A NP_001307583.1:p.Glu578Lys
NM_001320654.2:c.1732G>A NP_001307583.1:p.Glu578Lys
NM_001320658.1:c.2410G>A NP_001307587.1:p.Glu804Lys
NM_001320658.2:c.2410G>A NP_001307587.1:p.Glu804Lys
NM_022970.3:c.2419G>A NP_075259.4:p.Glu807Lys
NM_023029.2:c.2149G>A NP_075418.1:p.Glu717Lys
NR_073009.1:n.2866G>A
NR_073009.2:n.2852G>A
ENST00000346997.6:c.2410G>A ENSP00000263451.5:p.Glu804Lys
ENST00000351936.10:c.2416G>A ENSP00000309878.9:p.Glu806Lys
ENST00000351936.11:c.2410G>A ENSP00000309878.10:p.Glu804Lys
ENST00000356226.8:c.2065G>A ENSP00000348559.4:p.Glu689Lys
ENST00000357555.9:c.2035-237G>A ENSP00000350166.5:n.2035-237G>A
ENST00000358487.9:c.2416G>A ENSP00000351276.5:p.Glu806Lys
ENST00000369059.5:c.2074G>A ENSP00000358055.1:p.Glu692Lys
ENST00000369060.8:c.2068G>A ENSP00000358056.4:p.Glu690Lys
ENST00000369061.8:c.2080G>A ENSP00000358057.4:p.Glu694Lys
ENST00000429361.5:c.1086G>A ENSP00000404219.1:p.Thr362=
ENST00000457416.6:c.2419G>A ENSP00000410294.2:p.Glu807Lys
ENST00000467584.1:n.375G>A
ENST00000478859.5:c.1732G>A ENSP00000474011.1:p.Glu578Lys
ENST00000604236.5:c.*1463G>A ENSP00000474109.1:n.*1463G>A
ENST00000613048.4:c.2149G>A ENSP00000484154.1:p.Glu717Lys
ENST00000638709.1:c.403G>A
ENST00000638709.2:c.1240G>A ENSP00000491912.2:p.Glu414Lys
ENST00000682296.1:n.1758G>A
ENST00000682550.1:c.2065G>A ENSP00000507633.1:p.Glu689Lys
ENST00000682772.1:c.1240G>A ENSP00000506848.1:p.Glu414Lys
ENST00000682904.1:n.1236G>A
ENST00000683029.1:n.2419G>A
ENST00000683211.1:c.2410G>A ENSP00000508257.1:p.Glu804Lys
ENST00000683250.1:c.*2709G>A ENSP00000506847.1:n.*2709G>A
ENST00000683418.1:n.4757G>A
ENST00000684153.1:c.*144G>A ENSP00000506937.1:n.*144G>A
ENST00000684516.1:n.3429G>A
XM_006717708.2:c.2470G>A XP_006717771.1:p.Glu824Lys
XM_006717708.3:c.2470G>A XP_006717771.1:p.Glu824Lys
XM_006717709.2:c.2467G>A XP_006717772.1:p.Glu823Lys
XM_006717710.2:c.*144G>A XP_006717773.1:n.*144G>A
XM_006717710.4:c.*144G>A XP_006717773.1:n.*144G>A
XM_006717711.2:c.2209G>A XP_006717774.1:p.Glu737Lys
XM_006717712.2:c.2131G>A XP_006717775.1:p.Glu711Lys
XM_006717713.2:c.*144G>A XP_006717776.1:n.*144G>A
XM_011539510.1:c.1732G>A XP_011537812.1:p.Glu578Lys
XM_017015920.2:c.*144G>A XP_016871409.1:n.*144G>A
XM_017015921.2:c.*144G>A XP_016871410.1:n.*144G>A
XM_017015924.2:c.2128G>A XP_016871413.1:p.Glu710Lys
XM_017015925.2:c.*144G>A XP_016871414.1:n.*144G>A
XM_024447887.1:c.2206G>A XP_024303655.1:p.Glu736Lys
XM_024447888.1:c.2203G>A XP_024303656.1:p.Glu735Lys
XM_024447889.1:c.2200G>A XP_024303657.1:p.Glu734Lys
XM_024447890.1:c.2209G>A XP_024303658.1:p.Glu737Lys
XM_024447891.1:c.2131G>A XP_024303659.1:p.Glu711Lys
XM_024447892.1:c.1246G>A XP_024303660.1:p.Glu416Lys