Canonical Allele Identifier: CA5720462
Gene: FGFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121479995G>A , CM000672.2:g.121479995G>A GRCh38
NC_000010.10:g.123239509G>A , CM000672.1:g.123239509G>A GRCh37
NC_000010.9:g.123229499G>A NCBI36
NG_012449.1:g.123464C>T
NG_012449.2:g.123464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.2331C>T MANE Plus Clinical ENSP00000410294.2:p.Leu777=
ENST00000351936.11:c.2322C>T ENSP00000309878.10:p.Leu774=
ENST00000638709.2:c.1152C>T ENSP00000491912.2:p.Leu384=
ENST00000682296.1:n.1670C>T
ENST00000682550.1:c.1977C>T ENSP00000507633.1:p.Leu659=
ENST00000682772.1:c.1152C>T ENSP00000506848.1:p.Leu384=
ENST00000682904.1:n.1148C>T
ENST00000683029.1:n.2331C>T
ENST00000683211.1:c.2322C>T ENSP00000508257.1:p.Leu774=
ENST00000683250.1:c.*2621C>T ENSP00000506847.1:n.*2621C>T
ENST00000683418.1:n.4669C>T
ENST00000684153.1:c.*56C>T ENSP00000506937.1:n.*56C>T
ENST00000684516.1:n.3341C>T
ENST00000358487.10:c.2328C>T MANE Select ENSP00000351276.6:p.Leu776=
ENST00000638709.1:c.315C>T
ENST00000346997.6:c.2322C>T ENSP00000263451.5:p.Leu774=
ENST00000351936.10:c.2328C>T ENSP00000309878.9:p.Leu776=
ENST00000356226.8:c.1977C>T ENSP00000348559.4:p.Leu659=
ENST00000357555.9:c.2035-325C>T ENSP00000350166.5:n.2035-325C>T
ENST00000358487.9:c.2328C>T ENSP00000351276.5:p.Leu776=
ENST00000369059.5:c.1986C>T ENSP00000358055.1:p.Leu662=
ENST00000369060.8:c.1980C>T ENSP00000358056.4:p.Leu660=
ENST00000369061.8:c.1992C>T ENSP00000358057.4:p.Leu664=
ENST00000429361.5:c.998C>T ENSP00000404219.1:p.Ser333Leu
ENST00000457416.6:c.2331C>T ENSP00000410294.2:p.Leu777=
ENST00000467584.1:n.287C>T
ENST00000478859.5:c.1644C>T ENSP00000474011.1:p.Leu548=
ENST00000604236.5:c.*1375C>T ENSP00000474109.1:n.*1375C>T
ENST00000613048.4:c.2061C>T ENSP00000484154.1:p.Leu687=
NM_000141.4:c.2328C>T NP_000132.3:p.Leu776=
NM_001144914.1:c.1992C>T NP_001138386.1:p.Leu664=
NM_001144915.1:c.2035-325C>T NP_001138387.1:n.2035-325C>T
NM_001144916.1:c.1983C>T NP_001138388.1:p.Leu661=
NM_001144917.1:c.1980C>T NP_001138389.1:p.Leu660=
NM_001144918.1:c.1977C>T NP_001138390.1:p.Leu659=
NM_022970.3:c.2331C>T NP_075259.4:p.Leu777=
NM_023029.2:c.2061C>T NP_075418.1:p.Leu687=
NR_073009.1:n.2778C>T
XM_006717708.2:c.2382C>T XP_006717771.1:p.Leu794=
XM_006717709.2:c.2379C>T XP_006717772.1:p.Leu793=
XM_006717710.2:c.*56C>T XP_006717773.1:n.*56C>T
XM_006717711.2:c.2121C>T XP_006717774.1:p.Leu707=
XM_006717712.2:c.2043C>T XP_006717775.1:p.Leu681=
XM_006717713.2:c.*56C>T XP_006717776.1:n.*56C>T
XM_011539510.1:c.1644C>T XP_011537812.1:p.Leu548=
NM_001320654.1:c.1644C>T NP_001307583.1:p.Leu548=
NM_001320658.1:c.2322C>T NP_001307587.1:p.Leu774=
XM_006717708.3:c.2382C>T XP_006717771.1:p.Leu794=
XM_006717710.4:c.*56C>T XP_006717773.1:n.*56C>T
XM_017015920.2:c.*56C>T XP_016871409.1:n.*56C>T
XM_017015921.2:c.*56C>T XP_016871410.1:n.*56C>T
XM_017015924.2:c.2040C>T XP_016871413.1:p.Leu680=
XM_017015925.2:c.*56C>T XP_016871414.1:n.*56C>T
XM_024447887.1:c.2118C>T XP_024303655.1:p.Leu706=
XM_024447888.1:c.2115C>T XP_024303656.1:p.Leu705=
XM_024447889.1:c.2112C>T XP_024303657.1:p.Leu704=
XM_024447890.1:c.2121C>T XP_024303658.1:p.Leu707=
XM_024447891.1:c.2043C>T XP_024303659.1:p.Leu681=
XM_024447892.1:c.1158C>T XP_024303660.1:p.Leu386=
NM_000141.5:c.2328C>T MANE Select NP_000132.3:p.Leu776=
NM_001144917.2:c.1980C>T NP_001138389.1:p.Leu660=
NM_001144918.2:c.1977C>T NP_001138390.1:p.Leu659=
NM_001320658.2:c.2322C>T NP_001307587.1:p.Leu774=
NR_073009.2:n.2764C>T
NM_001144915.2:c.2035-325C>T NP_001138387.1:n.2035-325C>T
NM_001144916.2:c.1983C>T NP_001138388.1:p.Leu661=
NM_001320654.2:c.1644C>T NP_001307583.1:p.Leu548=