Canonical Allele Identifier: CA378328122
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517395G>T , CM000672.2:g.121517395G>T GRCh38
NC_000010.10:g.123276909G>T , CM000672.1:g.123276909G>T GRCh37
NC_000010.9:g.123266899G>T NCBI36
NG_012449.1:g.86064C>A
NG_012449.2:g.86064C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1087+1287C>A MANE Plus Clinical ENSP00000410294.2:n.1087+1287C>A
ENST00000351936.11:c.1008C>A ENSP00000309878.10:p.Asp336Glu
ENST00000638709.2:c.-163C>A ENSP00000491912.2:n.-163C>A
ENST00000682296.1:n.356C>A
ENST00000682400.1:n.663C>A
ENST00000682550.1:c.663C>A ENSP00000507633.1:p.Asp221Glu
ENST00000682772.1:c.-163C>A ENSP00000506848.1:n.-163C>A
ENST00000683211.1:c.1008C>A ENSP00000508257.1:p.Asp336Glu
ENST00000683250.1:c.404-13454C>A ENSP00000506847.1:n.404-13454C>A
ENST00000683418.1:n.3355C>A
ENST00000683678.1:n.1008C>A
ENST00000684153.1:c.663C>A ENSP00000506937.1:p.Asp221Glu
ENST00000358487.10:c.1008C>A MANE Select ENSP00000351276.6:p.Asp336Glu
ENST00000336553.10:c.741C>A ENSP00000337665.6:p.Asp247Glu
ENST00000346997.6:c.1008C>A ENSP00000263451.5:p.Asp336Glu
ENST00000351936.10:c.1014C>A ENSP00000309878.9:p.Asp338Glu
ENST00000356226.8:c.663C>A ENSP00000348559.4:p.Asp221Glu
ENST00000357555.9:c.741C>A ENSP00000350166.5:p.Asp247Glu
ENST00000358487.9:c.1008C>A ENSP00000351276.5:p.Asp336Glu
ENST00000360144.7:c.820+1287C>A ENSP00000353262.3:n.820+1287C>A
ENST00000369056.5:c.1087+1287C>A ENSP00000358052.1:n.1087+1287C>A
ENST00000369058.7:c.1087+1287C>A ENSP00000358054.3:n.1087+1287C>A
ENST00000369059.5:c.742+1287C>A ENSP00000358055.1:n.742+1287C>A
ENST00000369060.8:c.939+2584C>A ENSP00000358056.4:n.939+2584C>A
ENST00000369061.8:c.749-2076C>A ENSP00000358057.4:n.749-2076C>A
ENST00000457416.6:c.1087+1287C>A ENSP00000410294.2:n.1087+1287C>A
ENST00000463870.5:n.217C>A
ENST00000478859.5:c.324C>A ENSP00000474011.1:p.Asp108Glu
ENST00000490349.5:n.1417C>A
ENST00000604236.5:c.*55C>A ENSP00000474109.1:n.*55C>A
ENST00000613048.4:c.741C>A ENSP00000484154.1:p.Asp247Glu
NM_000141.4:c.1008C>A NP_000132.3:p.Asp336Glu
NM_001144913.1:c.1087+1287C>A NP_001138385.1:n.1087+1287C>A
NM_001144914.1:c.749-2076C>A NP_001138386.1:n.749-2076C>A
NM_001144915.1:c.741C>A NP_001138387.1:p.Asp247Glu
NM_001144916.1:c.663C>A NP_001138388.1:p.Asp221Glu
NM_001144917.1:c.939+2584C>A NP_001138389.1:n.939+2584C>A
NM_001144918.1:c.663C>A NP_001138390.1:p.Asp221Glu
NM_001144919.1:c.820+1287C>A NP_001138391.1:n.820+1287C>A
NM_022970.3:c.1087+1287C>A NP_075259.4:n.1087+1287C>A
NM_023029.2:c.741C>A NP_075418.1:p.Asp247Glu
NR_073009.1:n.1458C>A
XM_006717708.2:c.1144+1287C>A XP_006717771.1:n.1144+1287C>A
XM_006717709.2:c.1065C>A XP_006717772.1:p.Asp355Glu
XM_006717710.2:c.1144+1287C>A XP_006717773.1:n.1144+1287C>A
XM_006717711.2:c.877+1287C>A XP_006717774.1:n.877+1287C>A
XM_006717712.2:c.799+1287C>A XP_006717775.1:n.799+1287C>A
XM_006717713.2:c.1065C>A XP_006717776.1:p.Asp355Glu
XM_011539510.1:c.324C>A XP_011537812.1:p.Asp108Glu
NM_001320654.1:c.324C>A NP_001307583.1:p.Asp108Glu
NM_001320658.1:c.1008C>A NP_001307587.1:p.Asp336Glu
XM_006717708.3:c.1144+1287C>A XP_006717771.1:n.1144+1287C>A
XM_006717710.4:c.1144+1287C>A XP_006717773.1:n.1144+1287C>A
XM_017015920.2:c.1144+1287C>A XP_016871409.1:n.1144+1287C>A
XM_017015921.2:c.1065C>A XP_016871410.1:p.Asp355Glu
XM_017015924.2:c.720C>A XP_016871413.1:p.Asp240Glu
XM_017015925.2:c.720C>A XP_016871414.1:p.Asp240Glu
XM_024447887.1:c.798C>A XP_024303655.1:p.Asp266Glu
XM_024447888.1:c.877+1287C>A XP_024303656.1:n.877+1287C>A
XM_024447889.1:c.798C>A XP_024303657.1:p.Asp266Glu
XM_024447890.1:c.877+1287C>A XP_024303658.1:n.877+1287C>A
XM_024447891.1:c.799+1287C>A XP_024303659.1:n.799+1287C>A
XM_024447892.1:c.-163C>A XP_024303660.1:n.-163C>A
NM_000141.5:c.1008C>A MANE Select NP_000132.3:p.Asp336Glu
NM_001144917.2:c.939+2584C>A NP_001138389.1:n.939+2584C>A
NM_001144918.2:c.663C>A NP_001138390.1:p.Asp221Glu
NM_001144919.2:c.820+1287C>A NP_001138391.1:n.820+1287C>A
NM_001320658.2:c.1008C>A NP_001307587.1:p.Asp336Glu
NR_073009.2:n.1444C>A
NM_001144915.2:c.741C>A NP_001138387.1:p.Asp247Glu
NM_001144916.2:c.663C>A NP_001138388.1:p.Asp221Glu
NM_001320654.2:c.324C>A NP_001307583.1:p.Asp108Glu