Canonical Allele Identifier: CA378314072
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121487996T>C , CM000672.2:g.121487996T>C GRCh38
NC_000010.10:g.123247510T>C , CM000672.1:g.123247510T>C GRCh37
NC_000010.9:g.123237500T>C NCBI36
NG_012449.1:g.115463A>G
NG_012449.2:g.115463A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1984A>G MANE Plus Clinical ENSP00000410294.2:p.Thr662Ala
ENST00000351936.11:c.1975A>G ENSP00000309878.10:p.Thr659Ala
ENST00000638709.2:c.805A>G ENSP00000491912.2:p.Thr269Ala
ENST00000682296.1:n.1323A>G
ENST00000682550.1:c.1630A>G ENSP00000507633.1:p.Thr544Ala
ENST00000682772.1:c.805A>G ENSP00000506848.1:p.Thr269Ala
ENST00000682904.1:n.801A>G
ENST00000683029.1:n.393A>G
ENST00000683211.1:c.1975A>G ENSP00000508257.1:p.Thr659Ala
ENST00000683250.1:c.*683A>G ENSP00000506847.1:n.*683A>G
ENST00000683418.1:n.4322A>G
ENST00000684153.1:c.1630A>G ENSP00000506937.1:p.Thr544Ala
ENST00000684516.1:n.2994A>G
ENST00000358487.10:c.1981A>G MANE Select ENSP00000351276.6:p.Thr661Ala
ENST00000336553.10:c.1708A>G ENSP00000337665.6:p.Thr570Ala
ENST00000346997.6:c.1975A>G ENSP00000263451.5:p.Thr659Ala
ENST00000351936.10:c.1981A>G ENSP00000309878.9:p.Thr661Ala
ENST00000356226.8:c.1630A>G ENSP00000348559.4:p.Thr544Ala
ENST00000357555.9:c.1714A>G ENSP00000350166.5:p.Thr572Ala
ENST00000358487.9:c.1981A>G ENSP00000351276.5:p.Thr661Ala
ENST00000360144.7:c.1717A>G ENSP00000353262.3:p.Thr573Ala
ENST00000369056.5:c.1984A>G ENSP00000358052.1:p.Thr662Ala
ENST00000369058.7:c.1984A>G ENSP00000358054.3:p.Thr662Ala
ENST00000369059.5:c.1639A>G ENSP00000358055.1:p.Thr547Ala
ENST00000369060.8:c.1633A>G ENSP00000358056.4:p.Thr545Ala
ENST00000369061.8:c.1645A>G ENSP00000358057.4:p.Thr549Ala
ENST00000429361.5:c.757A>G ENSP00000404219.1:p.Thr253Ala
ENST00000457416.6:c.1984A>G ENSP00000410294.2:p.Thr662Ala
ENST00000478859.5:c.1297A>G ENSP00000474011.1:p.Thr433Ala
ENST00000604236.5:c.*1028A>G ENSP00000474109.1:n.*1028A>G
ENST00000613048.4:c.1714A>G ENSP00000484154.1:p.Thr572Ala
NM_000141.4:c.1981A>G NP_000132.3:p.Thr661Ala
NM_001144913.1:c.1984A>G NP_001138385.1:p.Thr662Ala
NM_001144914.1:c.1645A>G NP_001138386.1:p.Thr549Ala
NM_001144915.1:c.1714A>G NP_001138387.1:p.Thr572Ala
NM_001144916.1:c.1636A>G NP_001138388.1:p.Thr546Ala
NM_001144917.1:c.1633A>G NP_001138389.1:p.Thr545Ala
NM_001144918.1:c.1630A>G NP_001138390.1:p.Thr544Ala
NM_001144919.1:c.1717A>G NP_001138391.1:p.Thr573Ala
NM_022970.3:c.1984A>G NP_075259.4:p.Thr662Ala
NM_023029.2:c.1714A>G NP_075418.1:p.Thr572Ala
NR_073009.1:n.2431A>G
XM_006717708.2:c.2035A>G XP_006717771.1:p.Thr679Ala
XM_006717709.2:c.2032A>G XP_006717772.1:p.Thr678Ala
XM_006717710.2:c.2041A>G XP_006717773.1:p.Thr681Ala
XM_006717711.2:c.1774A>G XP_006717774.1:p.Thr592Ala
XM_006717712.2:c.1696A>G XP_006717775.1:p.Thr566Ala
XM_006717713.2:c.2038A>G XP_006717776.1:p.Thr680Ala
XM_011539510.1:c.1297A>G XP_011537812.1:p.Thr433Ala
NM_001320654.1:c.1297A>G NP_001307583.1:p.Thr433Ala
NM_001320658.1:c.1975A>G NP_001307587.1:p.Thr659Ala
XM_006717708.3:c.2035A>G XP_006717771.1:p.Thr679Ala
XM_006717710.4:c.2041A>G XP_006717773.1:p.Thr681Ala
XM_017015920.2:c.2035A>G XP_016871409.1:p.Thr679Ala
XM_017015921.2:c.2032A>G XP_016871410.1:p.Thr678Ala
XM_017015924.2:c.1693A>G XP_016871413.1:p.Thr565Ala
XM_017015925.2:c.1687A>G XP_016871414.1:p.Thr563Ala
XM_024447887.1:c.1771A>G XP_024303655.1:p.Thr591Ala
XM_024447888.1:c.1768A>G XP_024303656.1:p.Thr590Ala
XM_024447889.1:c.1765A>G XP_024303657.1:p.Thr589Ala
XM_024447890.1:c.1774A>G XP_024303658.1:p.Thr592Ala
XM_024447891.1:c.1696A>G XP_024303659.1:p.Thr566Ala
XM_024447892.1:c.811A>G XP_024303660.1:p.Thr271Ala
NM_000141.5:c.1981A>G MANE Select NP_000132.3:p.Thr661Ala
NM_001144917.2:c.1633A>G NP_001138389.1:p.Thr545Ala
NM_001144918.2:c.1630A>G NP_001138390.1:p.Thr544Ala
NM_001144919.2:c.1717A>G NP_001138391.1:p.Thr573Ala
NM_001320658.2:c.1975A>G NP_001307587.1:p.Thr659Ala
NR_073009.2:n.2417A>G
NM_001144915.2:c.1714A>G NP_001138387.1:p.Thr572Ala
NM_001144916.2:c.1636A>G NP_001138388.1:p.Thr546Ala
NM_001320654.2:c.1297A>G NP_001307583.1:p.Thr433Ala