Canonical Allele Identifier: CA378321440
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498523T>C , CM000672.2:g.121498523T>C GRCh38
NC_000010.10:g.123258037T>C , CM000672.1:g.123258037T>C GRCh37
NC_000010.9:g.123248027T>C NCBI36
NG_012449.1:g.104936A>G
NG_012449.2:g.104936A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1647A>G MANE Plus Clinical ENSP00000410294.2:p.Ile549Met
ENST00000351936.11:c.1638A>G ENSP00000309878.10:p.Ile546Met
ENST00000638709.2:c.468A>G ENSP00000491912.2:p.Ile156Met
ENST00000682296.1:n.986A>G
ENST00000682550.1:c.1293A>G ENSP00000507633.1:p.Ile431Met
ENST00000682772.1:c.468A>G ENSP00000506848.1:p.Ile156Met
ENST00000682904.1:n.464A>G
ENST00000683211.1:c.1638A>G ENSP00000508257.1:p.Ile546Met
ENST00000683250.1:c.*346A>G ENSP00000506847.1:n.*346A>G
ENST00000683418.1:n.3985A>G
ENST00000684153.1:c.1293A>G ENSP00000506937.1:p.Ile431Met
ENST00000684516.1:n.2657A>G
ENST00000358487.10:c.1644A>G MANE Select ENSP00000351276.6:p.Ile548Met
ENST00000336553.10:c.1371A>G ENSP00000337665.6:p.Ile457Met
ENST00000346997.6:c.1638A>G ENSP00000263451.5:p.Ile546Met
ENST00000351936.10:c.1644A>G ENSP00000309878.9:p.Ile548Met
ENST00000356226.8:c.1293A>G ENSP00000348559.4:p.Ile431Met
ENST00000357555.9:c.1377A>G ENSP00000350166.5:p.Ile459Met
ENST00000358487.9:c.1644A>G ENSP00000351276.5:p.Ile548Met
ENST00000360144.7:c.1380A>G ENSP00000353262.3:p.Ile460Met
ENST00000369056.5:c.1647A>G ENSP00000358052.1:p.Ile549Met
ENST00000369058.7:c.1647A>G ENSP00000358054.3:p.Ile549Met
ENST00000369059.5:c.1302A>G ENSP00000358055.1:p.Ile434Met
ENST00000369060.8:c.1296A>G ENSP00000358056.4:p.Ile432Met
ENST00000369061.8:c.1308A>G ENSP00000358057.4:p.Ile436Met
ENST00000429361.5:c.420A>G ENSP00000404219.1:p.Ile140Met
ENST00000457416.6:c.1647A>G ENSP00000410294.2:p.Ile549Met
ENST00000478859.5:c.960A>G ENSP00000474011.1:p.Ile320Met
ENST00000604236.5:c.*691A>G ENSP00000474109.1:n.*691A>G
ENST00000613048.4:c.1377A>G ENSP00000484154.1:p.Ile459Met
NM_000141.4:c.1644A>G NP_000132.3:p.Ile548Met
NM_001144913.1:c.1647A>G NP_001138385.1:p.Ile549Met
NM_001144914.1:c.1308A>G NP_001138386.1:p.Ile436Met
NM_001144915.1:c.1377A>G NP_001138387.1:p.Ile459Met
NM_001144916.1:c.1299A>G NP_001138388.1:p.Ile433Met
NM_001144917.1:c.1296A>G NP_001138389.1:p.Ile432Met
NM_001144918.1:c.1293A>G NP_001138390.1:p.Ile431Met
NM_001144919.1:c.1380A>G NP_001138391.1:p.Ile460Met
NM_022970.3:c.1647A>G NP_075259.4:p.Ile549Met
NM_023029.2:c.1377A>G NP_075418.1:p.Ile459Met
NR_073009.1:n.2094A>G
XM_006717708.2:c.1698A>G XP_006717771.1:p.Ile566Met
XM_006717709.2:c.1695A>G XP_006717772.1:p.Ile565Met
XM_006717710.2:c.1704A>G XP_006717773.1:p.Ile568Met
XM_006717711.2:c.1437A>G XP_006717774.1:p.Ile479Met
XM_006717712.2:c.1359A>G XP_006717775.1:p.Ile453Met
XM_006717713.2:c.1701A>G XP_006717776.1:p.Ile567Met
XM_011539510.1:c.960A>G XP_011537812.1:p.Ile320Met
NM_001320654.1:c.960A>G NP_001307583.1:p.Ile320Met
NM_001320658.1:c.1638A>G NP_001307587.1:p.Ile546Met
XM_006717708.3:c.1698A>G XP_006717771.1:p.Ile566Met
XM_006717710.4:c.1704A>G XP_006717773.1:p.Ile568Met
XM_017015920.2:c.1698A>G XP_016871409.1:p.Ile566Met
XM_017015921.2:c.1695A>G XP_016871410.1:p.Ile565Met
XM_017015924.2:c.1356A>G XP_016871413.1:p.Ile452Met
XM_017015925.2:c.1350A>G XP_016871414.1:p.Ile450Met
XM_024447887.1:c.1434A>G XP_024303655.1:p.Ile478Met
XM_024447888.1:c.1431A>G XP_024303656.1:p.Ile477Met
XM_024447889.1:c.1428A>G XP_024303657.1:p.Ile476Met
XM_024447890.1:c.1437A>G XP_024303658.1:p.Ile479Met
XM_024447891.1:c.1359A>G XP_024303659.1:p.Ile453Met
XM_024447892.1:c.474A>G XP_024303660.1:p.Ile158Met
NM_000141.5:c.1644A>G MANE Select NP_000132.3:p.Ile548Met
NM_001144917.2:c.1296A>G NP_001138389.1:p.Ile432Met
NM_001144918.2:c.1293A>G NP_001138390.1:p.Ile431Met
NM_001144919.2:c.1380A>G NP_001138391.1:p.Ile460Met
NM_001320658.2:c.1638A>G NP_001307587.1:p.Ile546Met
NR_073009.2:n.2080A>G
NM_001144915.2:c.1377A>G NP_001138387.1:p.Ile459Met
NM_001144916.2:c.1299A>G NP_001138388.1:p.Ile433Met
NM_001320654.2:c.960A>G NP_001307583.1:p.Ile320Met