Canonical Allele Identifier: CA378320644

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121496702C>T , CM000672.2:g.121496702C>T	GRCh38
NC_000010.10:g.123256216C>T , CM000672.1:g.123256216C>T	GRCh37
NC_000010.9:g.123246206C>T	NCBI36
NG_012449.1:g.106757G>A
NG_012449.2:g.106757G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.1693G>A MANE Select	NP_000132.3:p.Glu565Lys
ENST00000358487.10:c.1693G>A MANE Select	ENSP00000351276.6:p.Glu565Lys
ENST00000457416.7:c.1696G>A MANE Plus Clinical	ENSP00000410294.2:p.Glu566Lys
NM_000141.4:c.1693G>A	NP_000132.3:p.Glu565Lys
NM_001144913.1:c.1696G>A	NP_001138385.1:p.Glu566Lys
NM_001144914.1:c.1357G>A	NP_001138386.1:p.Glu453Lys
NM_001144915.1:c.1426G>A	NP_001138387.1:p.Glu476Lys
NM_001144915.2:c.1426G>A	NP_001138387.1:p.Glu476Lys
NM_001144916.1:c.1348G>A	NP_001138388.1:p.Glu450Lys
NM_001144916.2:c.1348G>A	NP_001138388.1:p.Glu450Lys
NM_001144917.1:c.1345G>A	NP_001138389.1:p.Glu449Lys
NM_001144917.2:c.1345G>A	NP_001138389.1:p.Glu449Lys
NM_001144918.1:c.1342G>A	NP_001138390.1:p.Glu448Lys
NM_001144918.2:c.1342G>A	NP_001138390.1:p.Glu448Lys
NM_001144919.1:c.1429G>A	NP_001138391.1:p.Glu477Lys
NM_001144919.2:c.1429G>A	NP_001138391.1:p.Glu477Lys
NM_001320654.1:c.1009G>A	NP_001307583.1:p.Glu337Lys
NM_001320654.2:c.1009G>A	NP_001307583.1:p.Glu337Lys
NM_001320658.1:c.1687G>A	NP_001307587.1:p.Glu563Lys
NM_001320658.2:c.1687G>A	NP_001307587.1:p.Glu563Lys
NM_022970.3:c.1696G>A	NP_075259.4:p.Glu566Lys
NM_023029.2:c.1426G>A	NP_075418.1:p.Glu476Lys
NR_073009.1:n.2143G>A
NR_073009.2:n.2129G>A
ENST00000336553.10:c.1420G>A	ENSP00000337665.6:p.Glu474Lys
ENST00000346997.6:c.1687G>A	ENSP00000263451.5:p.Glu563Lys
ENST00000351936.10:c.1693G>A	ENSP00000309878.9:p.Glu565Lys
ENST00000351936.11:c.1687G>A	ENSP00000309878.10:p.Glu563Lys
ENST00000356226.8:c.1342G>A	ENSP00000348559.4:p.Glu448Lys
ENST00000357555.9:c.1426G>A	ENSP00000350166.5:p.Glu476Lys
ENST00000358487.9:c.1693G>A	ENSP00000351276.5:p.Glu565Lys
ENST00000360144.7:c.1429G>A	ENSP00000353262.3:p.Glu477Lys
ENST00000369056.5:c.1696G>A	ENSP00000358052.1:p.Glu566Lys
ENST00000369058.7:c.1696G>A	ENSP00000358054.3:p.Glu566Lys
ENST00000369059.5:c.1351G>A	ENSP00000358055.1:p.Glu451Lys
ENST00000369060.8:c.1345G>A	ENSP00000358056.4:p.Glu449Lys
ENST00000369061.8:c.1357G>A	ENSP00000358057.4:p.Glu453Lys
ENST00000429361.5:c.469G>A	ENSP00000404219.1:p.Glu157Lys
ENST00000457416.6:c.1696G>A	ENSP00000410294.2:p.Glu566Lys
ENST00000478859.5:c.1009G>A	ENSP00000474011.1:p.Glu337Lys
ENST00000604236.5:c.*740G>A	ENSP00000474109.1:n.*740G>A
ENST00000613048.4:c.1426G>A	ENSP00000484154.1:p.Glu476Lys
ENST00000638709.2:c.517G>A	ENSP00000491912.2:p.Glu173Lys
ENST00000682296.1:n.1035G>A
ENST00000682550.1:c.1342G>A	ENSP00000507633.1:p.Glu448Lys
ENST00000682772.1:c.517G>A	ENSP00000506848.1:p.Glu173Lys
ENST00000682904.1:n.513G>A
ENST00000683029.1:n.105G>A
ENST00000683211.1:c.1687G>A	ENSP00000508257.1:p.Glu563Lys
ENST00000683250.1:c.*395G>A	ENSP00000506847.1:n.*395G>A
ENST00000683418.1:n.4034G>A
ENST00000684153.1:c.1342G>A	ENSP00000506937.1:p.Glu448Lys
ENST00000684516.1:n.2706G>A
XM_006717708.2:c.1747G>A	XP_006717771.1:p.Glu583Lys
XM_006717708.3:c.1747G>A	XP_006717771.1:p.Glu583Lys
XM_006717709.2:c.1744G>A	XP_006717772.1:p.Glu582Lys
XM_006717710.2:c.1753G>A	XP_006717773.1:p.Glu585Lys
XM_006717710.4:c.1753G>A	XP_006717773.1:p.Glu585Lys
XM_006717711.2:c.1486G>A	XP_006717774.1:p.Glu496Lys
XM_006717712.2:c.1408G>A	XP_006717775.1:p.Glu470Lys
XM_006717713.2:c.1750G>A	XP_006717776.1:p.Glu584Lys
XM_011539510.1:c.1009G>A	XP_011537812.1:p.Glu337Lys
XM_017015920.2:c.1747G>A	XP_016871409.1:p.Glu583Lys
XM_017015921.2:c.1744G>A	XP_016871410.1:p.Glu582Lys
XM_017015924.2:c.1405G>A	XP_016871413.1:p.Glu469Lys
XM_017015925.2:c.1399G>A	XP_016871414.1:p.Glu467Lys
XM_024447887.1:c.1483G>A	XP_024303655.1:p.Glu495Lys
XM_024447888.1:c.1480G>A	XP_024303656.1:p.Glu494Lys
XM_024447889.1:c.1477G>A	XP_024303657.1:p.Glu493Lys
XM_024447890.1:c.1486G>A	XP_024303658.1:p.Glu496Lys
XM_024447891.1:c.1408G>A	XP_024303659.1:p.Glu470Lys
XM_024447892.1:c.523G>A	XP_024303660.1:p.Glu175Lys