Canonical Allele Identifier: CA378321363
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2133971833

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498507A>G , CM000672.2:g.121498507A>G GRCh38
NC_000010.10:g.123258021A>G , CM000672.1:g.123258021A>G GRCh37
NC_000010.9:g.123248011A>G NCBI36
NG_012449.1:g.104952T>C
NG_012449.2:g.104952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1663T>C MANE Plus Clinical ENSP00000410294.2:p.Cys555Arg
ENST00000351936.11:c.1654T>C ENSP00000309878.10:p.Cys552Arg
ENST00000638709.2:c.484T>C ENSP00000491912.2:p.Cys162Arg
ENST00000682296.1:n.1002T>C
ENST00000682550.1:c.1309T>C ENSP00000507633.1:p.Cys437Arg
ENST00000682772.1:c.484T>C ENSP00000506848.1:p.Cys162Arg
ENST00000682904.1:n.480T>C
ENST00000683211.1:c.1654T>C ENSP00000508257.1:p.Cys552Arg
ENST00000683250.1:c.*362T>C ENSP00000506847.1:n.*362T>C
ENST00000683418.1:n.4001T>C
ENST00000684153.1:c.1309T>C ENSP00000506937.1:p.Cys437Arg
ENST00000684516.1:n.2673T>C
ENST00000358487.10:c.1660T>C MANE Select ENSP00000351276.6:p.Cys554Arg
ENST00000336553.10:c.1387T>C ENSP00000337665.6:p.Cys463Arg
ENST00000346997.6:c.1654T>C ENSP00000263451.5:p.Cys552Arg
ENST00000351936.10:c.1660T>C ENSP00000309878.9:p.Cys554Arg
ENST00000356226.8:c.1309T>C ENSP00000348559.4:p.Cys437Arg
ENST00000357555.9:c.1393T>C ENSP00000350166.5:p.Cys465Arg
ENST00000358487.9:c.1660T>C ENSP00000351276.5:p.Cys554Arg
ENST00000360144.7:c.1396T>C ENSP00000353262.3:p.Cys466Arg
ENST00000369056.5:c.1663T>C ENSP00000358052.1:p.Cys555Arg
ENST00000369058.7:c.1663T>C ENSP00000358054.3:p.Cys555Arg
ENST00000369059.5:c.1318T>C ENSP00000358055.1:p.Cys440Arg
ENST00000369060.8:c.1312T>C ENSP00000358056.4:p.Cys438Arg
ENST00000369061.8:c.1324T>C ENSP00000358057.4:p.Cys442Arg
ENST00000429361.5:c.436T>C ENSP00000404219.1:p.Cys146Arg
ENST00000457416.6:c.1663T>C ENSP00000410294.2:p.Cys555Arg
ENST00000478859.5:c.976T>C ENSP00000474011.1:p.Cys326Arg
ENST00000604236.5:c.*707T>C ENSP00000474109.1:n.*707T>C
ENST00000613048.4:c.1393T>C ENSP00000484154.1:p.Cys465Arg
NM_000141.4:c.1660T>C NP_000132.3:p.Cys554Arg
NM_001144913.1:c.1663T>C NP_001138385.1:p.Cys555Arg
NM_001144914.1:c.1324T>C NP_001138386.1:p.Cys442Arg
NM_001144915.1:c.1393T>C NP_001138387.1:p.Cys465Arg
NM_001144916.1:c.1315T>C NP_001138388.1:p.Cys439Arg
NM_001144917.1:c.1312T>C NP_001138389.1:p.Cys438Arg
NM_001144918.1:c.1309T>C NP_001138390.1:p.Cys437Arg
NM_001144919.1:c.1396T>C NP_001138391.1:p.Cys466Arg
NM_022970.3:c.1663T>C NP_075259.4:p.Cys555Arg
NM_023029.2:c.1393T>C NP_075418.1:p.Cys465Arg
NR_073009.1:n.2110T>C
XM_006717708.2:c.1714T>C XP_006717771.1:p.Cys572Arg
XM_006717709.2:c.1711T>C XP_006717772.1:p.Cys571Arg
XM_006717710.2:c.1720T>C XP_006717773.1:p.Cys574Arg
XM_006717711.2:c.1453T>C XP_006717774.1:p.Cys485Arg
XM_006717712.2:c.1375T>C XP_006717775.1:p.Cys459Arg
XM_006717713.2:c.1717T>C XP_006717776.1:p.Cys573Arg
XM_011539510.1:c.976T>C XP_011537812.1:p.Cys326Arg
NM_001320654.1:c.976T>C NP_001307583.1:p.Cys326Arg
NM_001320658.1:c.1654T>C NP_001307587.1:p.Cys552Arg
XM_006717708.3:c.1714T>C XP_006717771.1:p.Cys572Arg
XM_006717710.4:c.1720T>C XP_006717773.1:p.Cys574Arg
XM_017015920.2:c.1714T>C XP_016871409.1:p.Cys572Arg
XM_017015921.2:c.1711T>C XP_016871410.1:p.Cys571Arg
XM_017015924.2:c.1372T>C XP_016871413.1:p.Cys458Arg
XM_017015925.2:c.1366T>C XP_016871414.1:p.Cys456Arg
XM_024447887.1:c.1450T>C XP_024303655.1:p.Cys484Arg
XM_024447888.1:c.1447T>C XP_024303656.1:p.Cys483Arg
XM_024447889.1:c.1444T>C XP_024303657.1:p.Cys482Arg
XM_024447890.1:c.1453T>C XP_024303658.1:p.Cys485Arg
XM_024447891.1:c.1375T>C XP_024303659.1:p.Cys459Arg
XM_024447892.1:c.490T>C XP_024303660.1:p.Cys164Arg
NM_000141.5:c.1660T>C MANE Select NP_000132.3:p.Cys554Arg
NM_001144917.2:c.1312T>C NP_001138389.1:p.Cys438Arg
NM_001144918.2:c.1309T>C NP_001138390.1:p.Cys437Arg
NM_001144919.2:c.1396T>C NP_001138391.1:p.Cys466Arg
NM_001320658.2:c.1654T>C NP_001307587.1:p.Cys552Arg
NR_073009.2:n.2096T>C
NM_001144915.2:c.1393T>C NP_001138387.1:p.Cys465Arg
NM_001144916.2:c.1315T>C NP_001138388.1:p.Cys439Arg
NM_001320654.2:c.976T>C NP_001307583.1:p.Cys326Arg