Canonical Allele Identifier: CA5720652

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121496621G>A , CM000672.2:g.121496621G>A	GRCh38
NC_000010.10:g.123256135G>A , CM000672.1:g.123256135G>A	GRCh37
NC_000010.9:g.123246125G>A	NCBI36
NG_012449.1:g.106838C>T
NG_012449.2:g.106838C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.1774C>T MANE Select	NP_000132.3:p.Arg592Cys
ENST00000358487.10:c.1774C>T MANE Select	ENSP00000351276.6:p.Arg592Cys
ENST00000457416.7:c.1777C>T MANE Plus Clinical	ENSP00000410294.2:p.Arg593Cys
NM_000141.4:c.1774C>T	NP_000132.3:p.Arg592Cys
NM_001144913.1:c.1777C>T	NP_001138385.1:p.Arg593Cys
NM_001144914.1:c.1438C>T	NP_001138386.1:p.Arg480Cys
NM_001144915.1:c.1507C>T	NP_001138387.1:p.Arg503Cys
NM_001144915.2:c.1507C>T	NP_001138387.1:p.Arg503Cys
NM_001144916.1:c.1429C>T	NP_001138388.1:p.Arg477Cys
NM_001144916.2:c.1429C>T	NP_001138388.1:p.Arg477Cys
NM_001144917.1:c.1426C>T	NP_001138389.1:p.Arg476Cys
NM_001144917.2:c.1426C>T	NP_001138389.1:p.Arg476Cys
NM_001144918.1:c.1423C>T	NP_001138390.1:p.Arg475Cys
NM_001144918.2:c.1423C>T	NP_001138390.1:p.Arg475Cys
NM_001144919.1:c.1510C>T	NP_001138391.1:p.Arg504Cys
NM_001144919.2:c.1510C>T	NP_001138391.1:p.Arg504Cys
NM_001320654.1:c.1090C>T	NP_001307583.1:p.Arg364Cys
NM_001320654.2:c.1090C>T	NP_001307583.1:p.Arg364Cys
NM_001320658.1:c.1768C>T	NP_001307587.1:p.Arg590Cys
NM_001320658.2:c.1768C>T	NP_001307587.1:p.Arg590Cys
NM_022970.3:c.1777C>T	NP_075259.4:p.Arg593Cys
NM_023029.2:c.1507C>T	NP_075418.1:p.Arg503Cys
NR_073009.1:n.2224C>T
NR_073009.2:n.2210C>T
ENST00000336553.10:c.1501C>T	ENSP00000337665.6:p.Arg501Cys
ENST00000346997.6:c.1768C>T	ENSP00000263451.5:p.Arg590Cys
ENST00000351936.10:c.1774C>T	ENSP00000309878.9:p.Arg592Cys
ENST00000351936.11:c.1768C>T	ENSP00000309878.10:p.Arg590Cys
ENST00000356226.8:c.1423C>T	ENSP00000348559.4:p.Arg475Cys
ENST00000357555.9:c.1507C>T	ENSP00000350166.5:p.Arg503Cys
ENST00000358487.9:c.1774C>T	ENSP00000351276.5:p.Arg592Cys
ENST00000360144.7:c.1510C>T	ENSP00000353262.3:p.Arg504Cys
ENST00000369056.5:c.1777C>T	ENSP00000358052.1:p.Arg593Cys
ENST00000369058.7:c.1777C>T	ENSP00000358054.3:p.Arg593Cys
ENST00000369059.5:c.1432C>T	ENSP00000358055.1:p.Arg478Cys
ENST00000369060.8:c.1426C>T	ENSP00000358056.4:p.Arg476Cys
ENST00000369061.8:c.1438C>T	ENSP00000358057.4:p.Arg480Cys
ENST00000429361.5:c.550C>T	ENSP00000404219.1:p.Arg184Cys
ENST00000457416.6:c.1777C>T	ENSP00000410294.2:p.Arg593Cys
ENST00000478859.5:c.1090C>T	ENSP00000474011.1:p.Arg364Cys
ENST00000604236.5:c.*821C>T	ENSP00000474109.1:n.*821C>T
ENST00000613048.4:c.1507C>T	ENSP00000484154.1:p.Arg503Cys
ENST00000638709.2:c.598C>T	ENSP00000491912.2:p.Arg200Cys
ENST00000682296.1:n.1116C>T
ENST00000682550.1:c.1423C>T	ENSP00000507633.1:p.Arg475Cys
ENST00000682772.1:c.598C>T	ENSP00000506848.1:p.Arg200Cys
ENST00000682904.1:n.594C>T
ENST00000683029.1:n.186C>T
ENST00000683211.1:c.1768C>T	ENSP00000508257.1:p.Arg590Cys
ENST00000683250.1:c.*476C>T	ENSP00000506847.1:n.*476C>T
ENST00000683418.1:n.4115C>T
ENST00000684153.1:c.1423C>T	ENSP00000506937.1:p.Arg475Cys
ENST00000684516.1:n.2787C>T
XM_006717708.2:c.1828C>T	XP_006717771.1:p.Arg610Cys
XM_006717708.3:c.1828C>T	XP_006717771.1:p.Arg610Cys
XM_006717709.2:c.1825C>T	XP_006717772.1:p.Arg609Cys
XM_006717710.2:c.1834C>T	XP_006717773.1:p.Arg612Cys
XM_006717710.4:c.1834C>T	XP_006717773.1:p.Arg612Cys
XM_006717711.2:c.1567C>T	XP_006717774.1:p.Arg523Cys
XM_006717712.2:c.1489C>T	XP_006717775.1:p.Arg497Cys
XM_006717713.2:c.1831C>T	XP_006717776.1:p.Arg611Cys
XM_011539510.1:c.1090C>T	XP_011537812.1:p.Arg364Cys
XM_017015920.2:c.1828C>T	XP_016871409.1:p.Arg610Cys
XM_017015921.2:c.1825C>T	XP_016871410.1:p.Arg609Cys
XM_017015924.2:c.1486C>T	XP_016871413.1:p.Arg496Cys
XM_017015925.2:c.1480C>T	XP_016871414.1:p.Arg494Cys
XM_024447887.1:c.1564C>T	XP_024303655.1:p.Arg522Cys
XM_024447888.1:c.1561C>T	XP_024303656.1:p.Arg521Cys
XM_024447889.1:c.1558C>T	XP_024303657.1:p.Arg520Cys
XM_024447890.1:c.1567C>T	XP_024303658.1:p.Arg523Cys
XM_024447891.1:c.1489C>T	XP_024303659.1:p.Arg497Cys
XM_024447892.1:c.604C>T	XP_024303660.1:p.Arg202Cys