Canonical Allele Identifier: CA378311118

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121483794C>T , CM000672.2:g.121483794C>T	GRCh38
NC_000010.10:g.123243308C>T , CM000672.1:g.123243308C>T	GRCh37
NC_000010.9:g.123233298C>T	NCBI36
NG_012449.1:g.119665G>A
NG_012449.2:g.119665G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.2205G>A MANE Select	NP_000132.3:p.Met735Ile
ENST00000358487.10:c.2205G>A MANE Select	ENSP00000351276.6:p.Met735Ile
ENST00000457416.7:c.2208G>A MANE Plus Clinical	ENSP00000410294.2:p.Met736Ile
NM_000141.4:c.2205G>A	NP_000132.3:p.Met735Ile
NM_001144913.1:c.2208G>A	NP_001138385.1:p.Met736Ile
NM_001144914.1:c.1869G>A	NP_001138386.1:p.Met623Ile
NM_001144915.1:c.1938G>A	NP_001138387.1:p.Met646Ile
NM_001144915.2:c.1938G>A	NP_001138387.1:p.Met646Ile
NM_001144916.1:c.1860G>A	NP_001138388.1:p.Met620Ile
NM_001144916.2:c.1860G>A	NP_001138388.1:p.Met620Ile
NM_001144917.1:c.1857G>A	NP_001138389.1:p.Met619Ile
NM_001144917.2:c.1857G>A	NP_001138389.1:p.Met619Ile
NM_001144918.1:c.1854G>A	NP_001138390.1:p.Met618Ile
NM_001144918.2:c.1854G>A	NP_001138390.1:p.Met618Ile
NM_001144919.1:c.1941G>A	NP_001138391.1:p.Met647Ile
NM_001144919.2:c.1941G>A	NP_001138391.1:p.Met647Ile
NM_001320654.1:c.1521G>A	NP_001307583.1:p.Met507Ile
NM_001320654.2:c.1521G>A	NP_001307583.1:p.Met507Ile
NM_001320658.1:c.2199G>A	NP_001307587.1:p.Met733Ile
NM_001320658.2:c.2199G>A	NP_001307587.1:p.Met733Ile
NM_022970.3:c.2208G>A	NP_075259.4:p.Met736Ile
NM_023029.2:c.1938G>A	NP_075418.1:p.Met646Ile
NR_073009.1:n.2655G>A
NR_073009.2:n.2641G>A
ENST00000336553.10:c.1932G>A	ENSP00000337665.6:p.Met644Ile
ENST00000346997.6:c.2199G>A	ENSP00000263451.5:p.Met733Ile
ENST00000351936.10:c.2205G>A	ENSP00000309878.9:p.Met735Ile
ENST00000351936.11:c.2199G>A	ENSP00000309878.10:p.Met733Ile
ENST00000356226.8:c.1854G>A	ENSP00000348559.4:p.Met618Ile
ENST00000357555.9:c.1938G>A	ENSP00000350166.5:p.Met646Ile
ENST00000358487.9:c.2205G>A	ENSP00000351276.5:p.Met735Ile
ENST00000360144.7:c.1941G>A	ENSP00000353262.3:p.Met647Ile
ENST00000369056.5:c.2208G>A	ENSP00000358052.1:p.Met736Ile
ENST00000369058.7:c.2208G>A	ENSP00000358054.3:p.Met736Ile
ENST00000369059.5:c.1863G>A	ENSP00000358055.1:p.Met621Ile
ENST00000369060.8:c.1857G>A	ENSP00000358056.4:p.Met619Ile
ENST00000369061.8:c.1869G>A	ENSP00000358057.4:p.Met623Ile
ENST00000429361.5:c.971+1601G>A	ENSP00000404219.1:n.971+1601G>A
ENST00000457416.6:c.2208G>A	ENSP00000410294.2:p.Met736Ile
ENST00000478859.5:c.1521G>A	ENSP00000474011.1:p.Met507Ile
ENST00000604236.5:c.*1252G>A	ENSP00000474109.1:n.*1252G>A
ENST00000613048.4:c.1938G>A	ENSP00000484154.1:p.Met646Ile
ENST00000638709.1:c.100G>A
ENST00000638709.2:c.1029G>A	ENSP00000491912.2:p.Met343Ile
ENST00000682296.1:n.1547G>A
ENST00000682550.1:c.1854G>A	ENSP00000507633.1:p.Met618Ile
ENST00000682772.1:c.1029G>A	ENSP00000506848.1:p.Met343Ile
ENST00000682904.1:n.1025G>A
ENST00000683029.1:n.2208G>A
ENST00000683211.1:c.2199G>A	ENSP00000508257.1:p.Met733Ile
ENST00000683250.1:c.*2498G>A	ENSP00000506847.1:n.*2498G>A
ENST00000683418.1:n.4546G>A
ENST00000683885.1:n.148G>A
ENST00000684153.1:c.1854G>A	ENSP00000506937.1:p.Met618Ile
ENST00000684516.1:n.3218G>A
XM_006717708.2:c.2259G>A	XP_006717771.1:p.Met753Ile
XM_006717708.3:c.2259G>A	XP_006717771.1:p.Met753Ile
XM_006717709.2:c.2256G>A	XP_006717772.1:p.Met752Ile
XM_006717710.2:c.2265G>A	XP_006717773.1:p.Met755Ile
XM_006717710.4:c.2265G>A	XP_006717773.1:p.Met755Ile
XM_006717711.2:c.1998G>A	XP_006717774.1:p.Met666Ile
XM_006717712.2:c.1920G>A	XP_006717775.1:p.Met640Ile
XM_006717713.2:c.2262G>A	XP_006717776.1:p.Met754Ile
XM_011539510.1:c.1521G>A	XP_011537812.1:p.Met507Ile
XM_017015920.2:c.2259G>A	XP_016871409.1:p.Met753Ile
XM_017015921.2:c.2256G>A	XP_016871410.1:p.Met752Ile
XM_017015924.2:c.1917G>A	XP_016871413.1:p.Met639Ile
XM_017015925.2:c.1911G>A	XP_016871414.1:p.Met637Ile
XM_024447887.1:c.1995G>A	XP_024303655.1:p.Met665Ile
XM_024447888.1:c.1992G>A	XP_024303656.1:p.Met664Ile
XM_024447889.1:c.1989G>A	XP_024303657.1:p.Met663Ile
XM_024447890.1:c.1998G>A	XP_024303658.1:p.Met666Ile
XM_024447891.1:c.1920G>A	XP_024303659.1:p.Met640Ile
XM_024447892.1:c.1035G>A	XP_024303660.1:p.Met345Ile