Canonical Allele Identifier: CA378326950
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2134219688

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121515124T>G , CM000672.2:g.121515124T>G GRCh38
NC_000010.10:g.123274638T>G , CM000672.1:g.123274638T>G GRCh37
NC_000010.9:g.123264628T>G NCBI36
NG_012449.1:g.88335A>C
NG_012449.2:g.88335A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1283A>C MANE Plus Clinical ENSP00000410294.2:p.Gln428Pro
ENST00000351936.11:c.1280A>C ENSP00000309878.10:p.Gln427Pro
ENST00000638709.2:c.110A>C ENSP00000491912.2:p.Gln37Pro
ENST00000682296.1:n.628A>C
ENST00000682550.1:c.935A>C ENSP00000507633.1:p.Gln312Pro
ENST00000682772.1:c.110A>C ENSP00000506848.1:p.Gln37Pro
ENST00000683211.1:c.1280A>C ENSP00000508257.1:p.Gln427Pro
ENST00000683250.1:c.404-11183A>C ENSP00000506847.1:n.404-11183A>C
ENST00000683418.1:n.3627A>C
ENST00000684153.1:c.935A>C ENSP00000506937.1:p.Gln312Pro
ENST00000358487.10:c.1280A>C MANE Select ENSP00000351276.6:p.Gln427Pro
ENST00000336553.10:c.1013A>C ENSP00000337665.6:p.Gln338Pro
ENST00000346997.6:c.1280A>C ENSP00000263451.5:p.Gln427Pro
ENST00000351936.10:c.1286A>C ENSP00000309878.9:p.Gln429Pro
ENST00000356226.8:c.935A>C ENSP00000348559.4:p.Gln312Pro
ENST00000357555.9:c.1013A>C ENSP00000350166.5:p.Gln338Pro
ENST00000358487.9:c.1280A>C ENSP00000351276.5:p.Gln427Pro
ENST00000360144.7:c.1016A>C ENSP00000353262.3:p.Gln339Pro
ENST00000369056.5:c.1283A>C ENSP00000358052.1:p.Gln428Pro
ENST00000369058.7:c.1283A>C ENSP00000358054.3:p.Gln428Pro
ENST00000369059.5:c.938A>C ENSP00000358055.1:p.Gln313Pro
ENST00000369060.8:c.939+4855A>C ENSP00000358056.4:n.939+4855A>C
ENST00000369061.8:c.944A>C ENSP00000358057.4:p.Gln315Pro
ENST00000429361.5:c.56A>C ENSP00000404219.1:p.Gln19Pro
ENST00000457416.6:c.1283A>C ENSP00000410294.2:p.Gln428Pro
ENST00000478859.5:c.596A>C ENSP00000474011.1:p.Gln199Pro
ENST00000604236.5:c.*327A>C ENSP00000474109.1:n.*327A>C
ENST00000613048.4:c.1013A>C ENSP00000484154.1:p.Gln338Pro
NM_000141.4:c.1280A>C NP_000132.3:p.Gln427Pro
NM_001144913.1:c.1283A>C NP_001138385.1:p.Gln428Pro
NM_001144914.1:c.944A>C NP_001138386.1:p.Gln315Pro
NM_001144915.1:c.1013A>C NP_001138387.1:p.Gln338Pro
NM_001144916.1:c.935A>C NP_001138388.1:p.Gln312Pro
NM_001144917.1:c.939+4855A>C NP_001138389.1:n.939+4855A>C
NM_001144918.1:c.935A>C NP_001138390.1:p.Gln312Pro
NM_001144919.1:c.1016A>C NP_001138391.1:p.Gln339Pro
NM_022970.3:c.1283A>C NP_075259.4:p.Gln428Pro
NM_023029.2:c.1013A>C NP_075418.1:p.Gln338Pro
NR_073009.1:n.1730A>C
XM_006717708.2:c.1340A>C XP_006717771.1:p.Gln447Pro
XM_006717709.2:c.1337A>C XP_006717772.1:p.Gln446Pro
XM_006717710.2:c.1340A>C XP_006717773.1:p.Gln447Pro
XM_006717711.2:c.1073A>C XP_006717774.1:p.Gln358Pro
XM_006717712.2:c.995A>C XP_006717775.1:p.Gln332Pro
XM_006717713.2:c.1337A>C XP_006717776.1:p.Gln446Pro
XM_011539510.1:c.596A>C XP_011537812.1:p.Gln199Pro
NM_001320654.1:c.596A>C NP_001307583.1:p.Gln199Pro
NM_001320658.1:c.1280A>C NP_001307587.1:p.Gln427Pro
XM_006717708.3:c.1340A>C XP_006717771.1:p.Gln447Pro
XM_006717710.4:c.1340A>C XP_006717773.1:p.Gln447Pro
XM_017015920.2:c.1340A>C XP_016871409.1:p.Gln447Pro
XM_017015921.2:c.1337A>C XP_016871410.1:p.Gln446Pro
XM_017015924.2:c.992A>C XP_016871413.1:p.Gln331Pro
XM_017015925.2:c.992A>C XP_016871414.1:p.Gln331Pro
XM_024447887.1:c.1070A>C XP_024303655.1:p.Gln357Pro
XM_024447888.1:c.1073A>C XP_024303656.1:p.Gln358Pro
XM_024447889.1:c.1070A>C XP_024303657.1:p.Gln357Pro
XM_024447890.1:c.1073A>C XP_024303658.1:p.Gln358Pro
XM_024447891.1:c.995A>C XP_024303659.1:p.Gln332Pro
XM_024447892.1:c.110A>C XP_024303660.1:p.Gln37Pro
NM_000141.5:c.1280A>C MANE Select NP_000132.3:p.Gln427Pro
NM_001144917.2:c.939+4855A>C NP_001138389.1:n.939+4855A>C
NM_001144918.2:c.935A>C NP_001138390.1:p.Gln312Pro
NM_001144919.2:c.1016A>C NP_001138391.1:p.Gln339Pro
NM_001320658.2:c.1280A>C NP_001307587.1:p.Gln427Pro
NR_073009.2:n.1716A>C
NM_001144915.2:c.1013A>C NP_001138387.1:p.Gln338Pro
NM_001144916.2:c.935A>C NP_001138388.1:p.Gln312Pro
NM_001320654.2:c.596A>C NP_001307583.1:p.Gln199Pro