Canonical Allele Identifier: CA378315132
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488108A>C , CM000672.2:g.121488108A>C GRCh38
NC_000010.10:g.123247622A>C , CM000672.1:g.123247622A>C GRCh37
NC_000010.9:g.123237612A>C NCBI36
NG_012449.1:g.115351T>G
NG_012449.2:g.115351T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1872T>G MANE Plus Clinical ENSP00000410294.2:p.Ile624Met
ENST00000351936.11:c.1863T>G ENSP00000309878.10:p.Ile621Met
ENST00000638709.2:c.693T>G ENSP00000491912.2:p.Ile231Met
ENST00000682296.1:n.1211T>G
ENST00000682550.1:c.1518T>G ENSP00000507633.1:p.Ile506Met
ENST00000682772.1:c.693T>G ENSP00000506848.1:p.Ile231Met
ENST00000682904.1:n.689T>G
ENST00000683029.1:n.281T>G
ENST00000683211.1:c.1863T>G ENSP00000508257.1:p.Ile621Met
ENST00000683250.1:c.*571T>G ENSP00000506847.1:n.*571T>G
ENST00000683418.1:n.4210T>G
ENST00000684153.1:c.1518T>G ENSP00000506937.1:p.Ile506Met
ENST00000684516.1:n.2882T>G
ENST00000358487.10:c.1869T>G MANE Select ENSP00000351276.6:p.Ile623Met
ENST00000336553.10:c.1596T>G ENSP00000337665.6:p.Ile532Met
ENST00000346997.6:c.1863T>G ENSP00000263451.5:p.Ile621Met
ENST00000351936.10:c.1869T>G ENSP00000309878.9:p.Ile623Met
ENST00000356226.8:c.1518T>G ENSP00000348559.4:p.Ile506Met
ENST00000357555.9:c.1602T>G ENSP00000350166.5:p.Ile534Met
ENST00000358487.9:c.1869T>G ENSP00000351276.5:p.Ile623Met
ENST00000360144.7:c.1605T>G ENSP00000353262.3:p.Ile535Met
ENST00000369056.5:c.1872T>G ENSP00000358052.1:p.Ile624Met
ENST00000369058.7:c.1872T>G ENSP00000358054.3:p.Ile624Met
ENST00000369059.5:c.1527T>G ENSP00000358055.1:p.Ile509Met
ENST00000369060.8:c.1521T>G ENSP00000358056.4:p.Ile507Met
ENST00000369061.8:c.1533T>G ENSP00000358057.4:p.Ile511Met
ENST00000429361.5:c.645T>G ENSP00000404219.1:p.Ile215Met
ENST00000457416.6:c.1872T>G ENSP00000410294.2:p.Ile624Met
ENST00000478859.5:c.1185T>G ENSP00000474011.1:p.Ile395Met
ENST00000604236.5:c.*916T>G ENSP00000474109.1:n.*916T>G
ENST00000613048.4:c.1602T>G ENSP00000484154.1:p.Ile534Met
NM_000141.4:c.1869T>G NP_000132.3:p.Ile623Met
NM_001144913.1:c.1872T>G NP_001138385.1:p.Ile624Met
NM_001144914.1:c.1533T>G NP_001138386.1:p.Ile511Met
NM_001144915.1:c.1602T>G NP_001138387.1:p.Ile534Met
NM_001144916.1:c.1524T>G NP_001138388.1:p.Ile508Met
NM_001144917.1:c.1521T>G NP_001138389.1:p.Ile507Met
NM_001144918.1:c.1518T>G NP_001138390.1:p.Ile506Met
NM_001144919.1:c.1605T>G NP_001138391.1:p.Ile535Met
NM_022970.3:c.1872T>G NP_075259.4:p.Ile624Met
NM_023029.2:c.1602T>G NP_075418.1:p.Ile534Met
NR_073009.1:n.2319T>G
XM_006717708.2:c.1923T>G XP_006717771.1:p.Ile641Met
XM_006717709.2:c.1920T>G XP_006717772.1:p.Ile640Met
XM_006717710.2:c.1929T>G XP_006717773.1:p.Ile643Met
XM_006717711.2:c.1662T>G XP_006717774.1:p.Ile554Met
XM_006717712.2:c.1584T>G XP_006717775.1:p.Ile528Met
XM_006717713.2:c.1926T>G XP_006717776.1:p.Ile642Met
XM_011539510.1:c.1185T>G XP_011537812.1:p.Ile395Met
NM_001320654.1:c.1185T>G NP_001307583.1:p.Ile395Met
NM_001320658.1:c.1863T>G NP_001307587.1:p.Ile621Met
XM_006717708.3:c.1923T>G XP_006717771.1:p.Ile641Met
XM_006717710.4:c.1929T>G XP_006717773.1:p.Ile643Met
XM_017015920.2:c.1923T>G XP_016871409.1:p.Ile641Met
XM_017015921.2:c.1920T>G XP_016871410.1:p.Ile640Met
XM_017015924.2:c.1581T>G XP_016871413.1:p.Ile527Met
XM_017015925.2:c.1575T>G XP_016871414.1:p.Ile525Met
XM_024447887.1:c.1659T>G XP_024303655.1:p.Ile553Met
XM_024447888.1:c.1656T>G XP_024303656.1:p.Ile552Met
XM_024447889.1:c.1653T>G XP_024303657.1:p.Ile551Met
XM_024447890.1:c.1662T>G XP_024303658.1:p.Ile554Met
XM_024447891.1:c.1584T>G XP_024303659.1:p.Ile528Met
XM_024447892.1:c.699T>G XP_024303660.1:p.Ile233Met
NM_000141.5:c.1869T>G MANE Select NP_000132.3:p.Ile623Met
NM_001144917.2:c.1521T>G NP_001138389.1:p.Ile507Met
NM_001144918.2:c.1518T>G NP_001138390.1:p.Ile506Met
NM_001144919.2:c.1605T>G NP_001138391.1:p.Ile535Met
NM_001320658.2:c.1863T>G NP_001307587.1:p.Ile621Met
NR_073009.2:n.2305T>G
NM_001144915.2:c.1602T>G NP_001138387.1:p.Ile534Met
NM_001144916.2:c.1524T>G NP_001138388.1:p.Ile508Met
NM_001320654.2:c.1185T>G NP_001307583.1:p.Ile395Met