Canonical Allele Identifier: CA378327354
Gene: FGFR2 HGNC NCBI
COSMIC:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121515289G>A , CM000672.2:g.121515289G>A GRCh38
NC_000010.10:g.123274803G>A , CM000672.1:g.123274803G>A GRCh37
NC_000010.9:g.123264793G>A NCBI36
NG_012449.1:g.88170C>T
NG_012449.2:g.88170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1118C>T MANE Plus Clinical ENSP00000410294.2:p.Ser373Phe
ENST00000351936.11:c.1115C>T ENSP00000309878.10:p.Ser372Phe
ENST00000638709.2:c.-56C>T ENSP00000491912.2:n.-56C>T
ENST00000682296.1:n.463C>T
ENST00000682550.1:c.770C>T ENSP00000507633.1:p.Ser257Phe
ENST00000682772.1:c.-56C>T ENSP00000506848.1:n.-56C>T
ENST00000683211.1:c.1115C>T ENSP00000508257.1:p.Ser372Phe
ENST00000683250.1:c.404-11348C>T ENSP00000506847.1:n.404-11348C>T
ENST00000683418.1:n.3462C>T
ENST00000684153.1:c.770C>T ENSP00000506937.1:p.Ser257Phe
ENST00000358487.10:c.1115C>T MANE Select ENSP00000351276.6:p.Ser372Phe
ENST00000336553.10:c.848C>T ENSP00000337665.6:p.Ser283Phe
ENST00000346997.6:c.1115C>T ENSP00000263451.5:p.Ser372Phe
ENST00000351936.10:c.1121C>T ENSP00000309878.9:p.Ser374Phe
ENST00000356226.8:c.770C>T ENSP00000348559.4:p.Ser257Phe
ENST00000357555.9:c.848C>T ENSP00000350166.5:p.Ser283Phe
ENST00000358487.9:c.1115C>T ENSP00000351276.5:p.Ser372Phe
ENST00000360144.7:c.851C>T ENSP00000353262.3:p.Ser284Phe
ENST00000369056.5:c.1118C>T ENSP00000358052.1:p.Ser373Phe
ENST00000369058.7:c.1118C>T ENSP00000358054.3:p.Ser373Phe
ENST00000369059.5:c.773C>T ENSP00000358055.1:p.Ser258Phe
ENST00000369060.8:c.939+4690C>T ENSP00000358056.4:n.939+4690C>T
ENST00000369061.8:c.779C>T ENSP00000358057.4:p.Ser260Phe
ENST00000457416.6:c.1118C>T ENSP00000410294.2:p.Ser373Phe
ENST00000463870.5:n.324C>T
ENST00000478859.5:c.431C>T ENSP00000474011.1:p.Ser144Phe
ENST00000604236.5:c.*162C>T ENSP00000474109.1:n.*162C>T
ENST00000613048.4:c.848C>T ENSP00000484154.1:p.Ser283Phe
NM_000141.4:c.1115C>T NP_000132.3:p.Ser372Phe
NM_001144913.1:c.1118C>T NP_001138385.1:p.Ser373Phe
NM_001144914.1:c.779C>T NP_001138386.1:p.Ser260Phe
NM_001144915.1:c.848C>T NP_001138387.1:p.Ser283Phe
NM_001144916.1:c.770C>T NP_001138388.1:p.Ser257Phe
NM_001144917.1:c.939+4690C>T NP_001138389.1:n.939+4690C>T
NM_001144918.1:c.770C>T NP_001138390.1:p.Ser257Phe
NM_001144919.1:c.851C>T NP_001138391.1:p.Ser284Phe
NM_022970.3:c.1118C>T NP_075259.4:p.Ser373Phe
NM_023029.2:c.848C>T NP_075418.1:p.Ser283Phe
NR_073009.1:n.1565C>T
XM_006717708.2:c.1175C>T XP_006717771.1:p.Ser392Phe
XM_006717709.2:c.1172C>T XP_006717772.1:p.Ser391Phe
XM_006717710.2:c.1175C>T XP_006717773.1:p.Ser392Phe
XM_006717711.2:c.908C>T XP_006717774.1:p.Ser303Phe
XM_006717712.2:c.830C>T XP_006717775.1:p.Ser277Phe
XM_006717713.2:c.1172C>T XP_006717776.1:p.Ser391Phe
XM_011539510.1:c.431C>T XP_011537812.1:p.Ser144Phe
NM_001320654.1:c.431C>T NP_001307583.1:p.Ser144Phe
NM_001320658.1:c.1115C>T NP_001307587.1:p.Ser372Phe
XM_006717708.3:c.1175C>T XP_006717771.1:p.Ser392Phe
XM_006717710.4:c.1175C>T XP_006717773.1:p.Ser392Phe
XM_017015920.2:c.1175C>T XP_016871409.1:p.Ser392Phe
XM_017015921.2:c.1172C>T XP_016871410.1:p.Ser391Phe
XM_017015924.2:c.827C>T XP_016871413.1:p.Ser276Phe
XM_017015925.2:c.827C>T XP_016871414.1:p.Ser276Phe
XM_024447887.1:c.905C>T XP_024303655.1:p.Ser302Phe
XM_024447888.1:c.908C>T XP_024303656.1:p.Ser303Phe
XM_024447889.1:c.905C>T XP_024303657.1:p.Ser302Phe
XM_024447890.1:c.908C>T XP_024303658.1:p.Ser303Phe
XM_024447891.1:c.830C>T XP_024303659.1:p.Ser277Phe
XM_024447892.1:c.-56C>T XP_024303660.1:n.-56C>T
NM_000141.5:c.1115C>T MANE Select NP_000132.3:p.Ser372Phe
NM_001144917.2:c.939+4690C>T NP_001138389.1:n.939+4690C>T
NM_001144918.2:c.770C>T NP_001138390.1:p.Ser257Phe
NM_001144919.2:c.851C>T NP_001138391.1:p.Ser284Phe
NM_001320658.2:c.1115C>T NP_001307587.1:p.Ser372Phe
NR_073009.2:n.1551C>T
NM_001144915.2:c.848C>T NP_001138387.1:p.Ser283Phe
NM_001144916.2:c.770C>T NP_001138388.1:p.Ser257Phe
NM_001320654.2:c.431C>T NP_001307583.1:p.Ser144Phe