Canonical Allele Identifier: CA378321671
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498577A>C , CM000672.2:g.121498577A>C GRCh38
NC_000010.10:g.123258091A>C , CM000672.1:g.123258091A>C GRCh37
NC_000010.9:g.123248081A>C NCBI36
NG_012449.1:g.104882T>G
NG_012449.2:g.104882T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1593T>G MANE Plus Clinical ENSP00000410294.2:p.Asp531Glu
ENST00000351936.11:c.1584T>G ENSP00000309878.10:p.Asp528Glu
ENST00000638709.2:c.414T>G ENSP00000491912.2:p.Asp138Glu
ENST00000682296.1:n.932T>G
ENST00000682550.1:c.1239T>G ENSP00000507633.1:p.Asp413Glu
ENST00000682772.1:c.414T>G ENSP00000506848.1:p.Asp138Glu
ENST00000682904.1:n.410T>G
ENST00000683211.1:c.1584T>G ENSP00000508257.1:p.Asp528Glu
ENST00000683250.1:c.*292T>G ENSP00000506847.1:n.*292T>G
ENST00000683418.1:n.3931T>G
ENST00000684153.1:c.1239T>G ENSP00000506937.1:p.Asp413Glu
ENST00000684516.1:n.2603T>G
ENST00000358487.10:c.1590T>G MANE Select ENSP00000351276.6:p.Asp530Glu
ENST00000336553.10:c.1317T>G ENSP00000337665.6:p.Asp439Glu
ENST00000346997.6:c.1584T>G ENSP00000263451.5:p.Asp528Glu
ENST00000351936.10:c.1590T>G ENSP00000309878.9:p.Asp530Glu
ENST00000356226.8:c.1239T>G ENSP00000348559.4:p.Asp413Glu
ENST00000357555.9:c.1323T>G ENSP00000350166.5:p.Asp441Glu
ENST00000358487.9:c.1590T>G ENSP00000351276.5:p.Asp530Glu
ENST00000360144.7:c.1326T>G ENSP00000353262.3:p.Asp442Glu
ENST00000369056.5:c.1593T>G ENSP00000358052.1:p.Asp531Glu
ENST00000369058.7:c.1593T>G ENSP00000358054.3:p.Asp531Glu
ENST00000369059.5:c.1248T>G ENSP00000358055.1:p.Asp416Glu
ENST00000369060.8:c.1242T>G ENSP00000358056.4:p.Asp414Glu
ENST00000369061.8:c.1254T>G ENSP00000358057.4:p.Asp418Glu
ENST00000429361.5:c.366T>G ENSP00000404219.1:p.Asp122Glu
ENST00000457416.6:c.1593T>G ENSP00000410294.2:p.Asp531Glu
ENST00000478859.5:c.906T>G ENSP00000474011.1:p.Asp302Glu
ENST00000604236.5:c.*637T>G ENSP00000474109.1:n.*637T>G
ENST00000613048.4:c.1323T>G ENSP00000484154.1:p.Asp441Glu
NM_000141.4:c.1590T>G NP_000132.3:p.Asp530Glu
NM_001144913.1:c.1593T>G NP_001138385.1:p.Asp531Glu
NM_001144914.1:c.1254T>G NP_001138386.1:p.Asp418Glu
NM_001144915.1:c.1323T>G NP_001138387.1:p.Asp441Glu
NM_001144916.1:c.1245T>G NP_001138388.1:p.Asp415Glu
NM_001144917.1:c.1242T>G NP_001138389.1:p.Asp414Glu
NM_001144918.1:c.1239T>G NP_001138390.1:p.Asp413Glu
NM_001144919.1:c.1326T>G NP_001138391.1:p.Asp442Glu
NM_022970.3:c.1593T>G NP_075259.4:p.Asp531Glu
NM_023029.2:c.1323T>G NP_075418.1:p.Asp441Glu
NR_073009.1:n.2040T>G
XM_006717708.2:c.1644T>G XP_006717771.1:p.Asp548Glu
XM_006717709.2:c.1641T>G XP_006717772.1:p.Asp547Glu
XM_006717710.2:c.1650T>G XP_006717773.1:p.Asp550Glu
XM_006717711.2:c.1383T>G XP_006717774.1:p.Asp461Glu
XM_006717712.2:c.1305T>G XP_006717775.1:p.Asp435Glu
XM_006717713.2:c.1647T>G XP_006717776.1:p.Asp549Glu
XM_011539510.1:c.906T>G XP_011537812.1:p.Asp302Glu
NM_001320654.1:c.906T>G NP_001307583.1:p.Asp302Glu
NM_001320658.1:c.1584T>G NP_001307587.1:p.Asp528Glu
XM_006717708.3:c.1644T>G XP_006717771.1:p.Asp548Glu
XM_006717710.4:c.1650T>G XP_006717773.1:p.Asp550Glu
XM_017015920.2:c.1644T>G XP_016871409.1:p.Asp548Glu
XM_017015921.2:c.1641T>G XP_016871410.1:p.Asp547Glu
XM_017015924.2:c.1302T>G XP_016871413.1:p.Asp434Glu
XM_017015925.2:c.1296T>G XP_016871414.1:p.Asp432Glu
XM_024447887.1:c.1380T>G XP_024303655.1:p.Asp460Glu
XM_024447888.1:c.1377T>G XP_024303656.1:p.Asp459Glu
XM_024447889.1:c.1374T>G XP_024303657.1:p.Asp458Glu
XM_024447890.1:c.1383T>G XP_024303658.1:p.Asp461Glu
XM_024447891.1:c.1305T>G XP_024303659.1:p.Asp435Glu
XM_024447892.1:c.420T>G XP_024303660.1:p.Asp140Glu
NM_000141.5:c.1590T>G MANE Select NP_000132.3:p.Asp530Glu
NM_001144917.2:c.1242T>G NP_001138389.1:p.Asp414Glu
NM_001144918.2:c.1239T>G NP_001138390.1:p.Asp413Glu
NM_001144919.2:c.1326T>G NP_001138391.1:p.Asp442Glu
NM_001320658.2:c.1584T>G NP_001307587.1:p.Asp528Glu
NR_073009.2:n.2026T>G
NM_001144915.2:c.1323T>G NP_001138387.1:p.Asp441Glu
NM_001144916.2:c.1245T>G NP_001138388.1:p.Asp415Glu
NM_001320654.2:c.906T>G NP_001307583.1:p.Asp302Glu