Canonical Allele Identifier: CA378312193

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121485468G>T , CM000672.2:g.121485468G>T	GRCh38
NC_000010.10:g.123244982G>T , CM000672.1:g.123244982G>T	GRCh37
NC_000010.9:g.123234972G>T	NCBI36
NG_012449.1:g.117991C>A
NG_012449.2:g.117991C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.2122C>A MANE Select	NP_000132.3:p.Pro708Thr
ENST00000358487.10:c.2122C>A MANE Select	ENSP00000351276.6:p.Pro708Thr
ENST00000457416.7:c.2125C>A MANE Plus Clinical	ENSP00000410294.2:p.Pro709Thr
NM_000141.4:c.2122C>A	NP_000132.3:p.Pro708Thr
NM_001144913.1:c.2125C>A	NP_001138385.1:p.Pro709Thr
NM_001144914.1:c.1786C>A	NP_001138386.1:p.Pro596Thr
NM_001144915.1:c.1855C>A	NP_001138387.1:p.Pro619Thr
NM_001144915.2:c.1855C>A	NP_001138387.1:p.Pro619Thr
NM_001144916.1:c.1777C>A	NP_001138388.1:p.Pro593Thr
NM_001144916.2:c.1777C>A	NP_001138388.1:p.Pro593Thr
NM_001144917.1:c.1774C>A	NP_001138389.1:p.Pro592Thr
NM_001144917.2:c.1774C>A	NP_001138389.1:p.Pro592Thr
NM_001144918.1:c.1771C>A	NP_001138390.1:p.Pro591Thr
NM_001144918.2:c.1771C>A	NP_001138390.1:p.Pro591Thr
NM_001144919.1:c.1858C>A	NP_001138391.1:p.Pro620Thr
NM_001144919.2:c.1858C>A	NP_001138391.1:p.Pro620Thr
NM_001320654.1:c.1438C>A	NP_001307583.1:p.Pro480Thr
NM_001320654.2:c.1438C>A	NP_001307583.1:p.Pro480Thr
NM_001320658.1:c.2116C>A	NP_001307587.1:p.Pro706Thr
NM_001320658.2:c.2116C>A	NP_001307587.1:p.Pro706Thr
NM_022970.3:c.2125C>A	NP_075259.4:p.Pro709Thr
NM_023029.2:c.1855C>A	NP_075418.1:p.Pro619Thr
NR_073009.1:n.2572C>A
NR_073009.2:n.2558C>A
ENST00000336553.10:c.1849C>A	ENSP00000337665.6:p.Pro617Thr
ENST00000346997.6:c.2116C>A	ENSP00000263451.5:p.Pro706Thr
ENST00000351936.10:c.2122C>A	ENSP00000309878.9:p.Pro708Thr
ENST00000351936.11:c.2116C>A	ENSP00000309878.10:p.Pro706Thr
ENST00000356226.8:c.1771C>A	ENSP00000348559.4:p.Pro591Thr
ENST00000357555.9:c.1855C>A	ENSP00000350166.5:p.Pro619Thr
ENST00000358487.9:c.2122C>A	ENSP00000351276.5:p.Pro708Thr
ENST00000360144.7:c.1858C>A	ENSP00000353262.3:p.Pro620Thr
ENST00000369056.5:c.2125C>A	ENSP00000358052.1:p.Pro709Thr
ENST00000369058.7:c.2125C>A	ENSP00000358054.3:p.Pro709Thr
ENST00000369059.5:c.1780C>A	ENSP00000358055.1:p.Pro594Thr
ENST00000369060.8:c.1774C>A	ENSP00000358056.4:p.Pro592Thr
ENST00000369061.8:c.1786C>A	ENSP00000358057.4:p.Pro596Thr
ENST00000429361.5:c.898C>A	ENSP00000404219.1:p.Pro300Thr
ENST00000457416.6:c.2125C>A	ENSP00000410294.2:p.Pro709Thr
ENST00000478859.5:c.1438C>A	ENSP00000474011.1:p.Pro480Thr
ENST00000604236.5:c.*1169C>A	ENSP00000474109.1:n.*1169C>A
ENST00000613048.4:c.1855C>A	ENSP00000484154.1:p.Pro619Thr
ENST00000638709.1:c.17C>A
ENST00000638709.2:c.946C>A	ENSP00000491912.2:p.Pro316Thr
ENST00000682296.1:n.1464C>A
ENST00000682550.1:c.1771C>A	ENSP00000507633.1:p.Pro591Thr
ENST00000682772.1:c.946C>A	ENSP00000506848.1:p.Pro316Thr
ENST00000682904.1:n.942C>A
ENST00000683029.1:n.534C>A
ENST00000683211.1:c.2116C>A	ENSP00000508257.1:p.Pro706Thr
ENST00000683250.1:c.*824C>A	ENSP00000506847.1:n.*824C>A
ENST00000683418.1:n.4463C>A
ENST00000683885.1:n.65C>A
ENST00000684153.1:c.1771C>A	ENSP00000506937.1:p.Pro591Thr
ENST00000684516.1:n.3135C>A
XM_006717708.2:c.2176C>A	XP_006717771.1:p.Pro726Thr
XM_006717708.3:c.2176C>A	XP_006717771.1:p.Pro726Thr
XM_006717709.2:c.2173C>A	XP_006717772.1:p.Pro725Thr
XM_006717710.2:c.2182C>A	XP_006717773.1:p.Pro728Thr
XM_006717710.4:c.2182C>A	XP_006717773.1:p.Pro728Thr
XM_006717711.2:c.1915C>A	XP_006717774.1:p.Pro639Thr
XM_006717712.2:c.1837C>A	XP_006717775.1:p.Pro613Thr
XM_006717713.2:c.2179C>A	XP_006717776.1:p.Pro727Thr
XM_011539510.1:c.1438C>A	XP_011537812.1:p.Pro480Thr
XM_017015920.2:c.2176C>A	XP_016871409.1:p.Pro726Thr
XM_017015921.2:c.2173C>A	XP_016871410.1:p.Pro725Thr
XM_017015924.2:c.1834C>A	XP_016871413.1:p.Pro612Thr
XM_017015925.2:c.1828C>A	XP_016871414.1:p.Pro610Thr
XM_024447887.1:c.1912C>A	XP_024303655.1:p.Pro638Thr
XM_024447888.1:c.1909C>A	XP_024303656.1:p.Pro637Thr
XM_024447889.1:c.1906C>A	XP_024303657.1:p.Pro636Thr
XM_024447890.1:c.1915C>A	XP_024303658.1:p.Pro639Thr
XM_024447891.1:c.1837C>A	XP_024303659.1:p.Pro613Thr
XM_024447892.1:c.952C>A	XP_024303660.1:p.Pro318Thr