Canonical Allele Identifier: CA5720759

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121503847G>A , CM000672.2:g.121503847G>A	GRCh38
NC_000010.10:g.123263361G>A , CM000672.1:g.123263361G>A	GRCh37
NC_000010.9:g.123253351G>A	NCBI36
NG_012449.1:g.99612C>T
NG_012449.2:g.99612C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.1382C>T MANE Select	NP_000132.3:p.Ala461Val
ENST00000358487.10:c.1382C>T MANE Select	ENSP00000351276.6:p.Ala461Val
ENST00000457416.7:c.1385C>T MANE Plus Clinical	ENSP00000410294.2:p.Ala462Val
NM_000141.4:c.1382C>T	NP_000132.3:p.Ala461Val
NM_001144913.1:c.1385C>T	NP_001138385.1:p.Ala462Val
NM_001144914.1:c.1046C>T	NP_001138386.1:p.Ala349Val
NM_001144915.1:c.1115C>T	NP_001138387.1:p.Ala372Val
NM_001144915.2:c.1115C>T	NP_001138387.1:p.Ala372Val
NM_001144916.1:c.1037C>T	NP_001138388.1:p.Ala346Val
NM_001144916.2:c.1037C>T	NP_001138388.1:p.Ala346Val
NM_001144917.1:c.1034C>T	NP_001138389.1:p.Ala345Val
NM_001144917.2:c.1034C>T	NP_001138389.1:p.Ala345Val
NM_001144918.1:c.1031C>T	NP_001138390.1:p.Ala344Val
NM_001144918.2:c.1031C>T	NP_001138390.1:p.Ala344Val
NM_001144919.1:c.1118C>T	NP_001138391.1:p.Ala373Val
NM_001144919.2:c.1118C>T	NP_001138391.1:p.Ala373Val
NM_001320654.1:c.698C>T	NP_001307583.1:p.Ala233Val
NM_001320654.2:c.698C>T	NP_001307583.1:p.Ala233Val
NM_001320658.1:c.1376C>T	NP_001307587.1:p.Ala459Val
NM_001320658.2:c.1376C>T	NP_001307587.1:p.Ala459Val
NM_022970.3:c.1385C>T	NP_075259.4:p.Ala462Val
NM_023029.2:c.1115C>T	NP_075418.1:p.Ala372Val
NR_073009.1:n.1832C>T
NR_073009.2:n.1818C>T
ENST00000336553.10:c.1109C>T	ENSP00000337665.6:p.Ala370Val
ENST00000346997.6:c.1376C>T	ENSP00000263451.5:p.Ala459Val
ENST00000351936.10:c.1382C>T	ENSP00000309878.9:p.Ala461Val
ENST00000351936.11:c.1376C>T	ENSP00000309878.10:p.Ala459Val
ENST00000356226.8:c.1031C>T	ENSP00000348559.4:p.Ala344Val
ENST00000357555.9:c.1115C>T	ENSP00000350166.5:p.Ala372Val
ENST00000358487.9:c.1382C>T	ENSP00000351276.5:p.Ala461Val
ENST00000360144.7:c.1118C>T	ENSP00000353262.3:p.Ala373Val
ENST00000369056.5:c.1385C>T	ENSP00000358052.1:p.Ala462Val
ENST00000369058.7:c.1385C>T	ENSP00000358054.3:p.Ala462Val
ENST00000369059.5:c.1040C>T	ENSP00000358055.1:p.Ala347Val
ENST00000369060.8:c.1034C>T	ENSP00000358056.4:p.Ala345Val
ENST00000369061.8:c.1046C>T	ENSP00000358057.4:p.Ala349Val
ENST00000429361.5:c.158C>T	ENSP00000404219.1:p.Ala53Val
ENST00000457416.6:c.1385C>T	ENSP00000410294.2:p.Ala462Val
ENST00000478859.5:c.698C>T	ENSP00000474011.1:p.Ala233Val
ENST00000604236.5:c.*429C>T	ENSP00000474109.1:n.*429C>T
ENST00000613048.4:c.1115C>T	ENSP00000484154.1:p.Ala372Val
ENST00000638709.2:c.206C>T	ENSP00000491912.2:p.Ala69Val
ENST00000682296.1:n.724C>T
ENST00000682550.1:c.1031C>T	ENSP00000507633.1:p.Ala344Val
ENST00000682772.1:c.206C>T	ENSP00000506848.1:p.Ala69Val
ENST00000682904.1:n.202C>T
ENST00000683211.1:c.1376C>T	ENSP00000508257.1:p.Ala459Val
ENST00000683250.1:c.*84C>T	ENSP00000506847.1:n.*84C>T
ENST00000683418.1:n.3723C>T
ENST00000684153.1:c.1031C>T	ENSP00000506937.1:p.Ala344Val
ENST00000684516.1:n.2395C>T
XM_006717708.2:c.1436C>T	XP_006717771.1:p.Ala479Val
XM_006717708.3:c.1436C>T	XP_006717771.1:p.Ala479Val
XM_006717709.2:c.1433C>T	XP_006717772.1:p.Ala478Val
XM_006717710.2:c.1442C>T	XP_006717773.1:p.Ala481Val
XM_006717710.4:c.1442C>T	XP_006717773.1:p.Ala481Val
XM_006717711.2:c.1175C>T	XP_006717774.1:p.Ala392Val
XM_006717712.2:c.1097C>T	XP_006717775.1:p.Ala366Val
XM_006717713.2:c.1439C>T	XP_006717776.1:p.Ala480Val
XM_011539510.1:c.698C>T	XP_011537812.1:p.Ala233Val
XM_017015920.2:c.1436C>T	XP_016871409.1:p.Ala479Val
XM_017015921.2:c.1433C>T	XP_016871410.1:p.Ala478Val
XM_017015924.2:c.1094C>T	XP_016871413.1:p.Ala365Val
XM_017015925.2:c.1088C>T	XP_016871414.1:p.Ala363Val
XM_024447887.1:c.1172C>T	XP_024303655.1:p.Ala391Val
XM_024447888.1:c.1169C>T	XP_024303656.1:p.Ala390Val
XM_024447889.1:c.1166C>T	XP_024303657.1:p.Ala389Val
XM_024447890.1:c.1175C>T	XP_024303658.1:p.Ala392Val
XM_024447891.1:c.1097C>T	XP_024303659.1:p.Ala366Val
XM_024447892.1:c.212C>T	XP_024303660.1:p.Ala71Val