Canonical Allele Identifier: CA5720523

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121483754T>C , CM000672.2:g.121483754T>C	GRCh38
NC_000010.10:g.123243268T>C , CM000672.1:g.123243268T>C	GRCh37
NC_000010.9:g.123233258T>C	NCBI36
NG_012449.1:g.119705A>G
NG_012449.2:g.119705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.2248A>G MANE Plus Clinical	ENSP00000410294.2:p.Thr750Ala
ENST00000351936.11:c.2239A>G	ENSP00000309878.10:p.Thr747Ala
ENST00000638709.2:c.1069A>G	ENSP00000491912.2:p.Thr357Ala
ENST00000682296.1:n.1587A>G
ENST00000682550.1:c.1894A>G	ENSP00000507633.1:p.Thr632Ala
ENST00000682772.1:c.1069A>G	ENSP00000506848.1:p.Thr357Ala
ENST00000682904.1:n.1065A>G
ENST00000683029.1:n.2248A>G
ENST00000683211.1:c.2239A>G	ENSP00000508257.1:p.Thr747Ala
ENST00000683250.1:c.*2538A>G	ENSP00000506847.1:n.*2538A>G
ENST00000683418.1:n.4586A>G
ENST00000683885.1:n.188A>G
ENST00000684153.1:c.1894A>G	ENSP00000506937.1:p.Thr632Ala
ENST00000684516.1:n.3258A>G
ENST00000358487.10:c.2245A>G MANE Select	ENSP00000351276.6:p.Thr749Ala
ENST00000638709.1:c.140A>G
ENST00000336553.10:c.1972A>G	ENSP00000337665.6:p.Thr658Ala
ENST00000346997.6:c.2239A>G	ENSP00000263451.5:p.Thr747Ala
ENST00000351936.10:c.2245A>G	ENSP00000309878.9:p.Thr749Ala
ENST00000356226.8:c.1894A>G	ENSP00000348559.4:p.Thr632Ala
ENST00000357555.9:c.1978A>G	ENSP00000350166.5:p.Thr660Ala
ENST00000358487.9:c.2245A>G	ENSP00000351276.5:p.Thr749Ala
ENST00000360144.7:c.1981A>G	ENSP00000353262.3:p.Thr661Ala
ENST00000369056.5:c.2248A>G	ENSP00000358052.1:p.Thr750Ala
ENST00000369058.7:c.2248A>G	ENSP00000358054.3:p.Thr750Ala
ENST00000369059.5:c.1903A>G	ENSP00000358055.1:p.Thr635Ala
ENST00000369060.8:c.1897A>G	ENSP00000358056.4:p.Thr633Ala
ENST00000369061.8:c.1909A>G	ENSP00000358057.4:p.Thr637Ala
ENST00000429361.5:c.971+1641A>G	ENSP00000404219.1:n.971+1641A>G
ENST00000457416.6:c.2248A>G	ENSP00000410294.2:p.Thr750Ala
ENST00000478859.5:c.1561A>G	ENSP00000474011.1:p.Thr521Ala
ENST00000604236.5:c.*1292A>G	ENSP00000474109.1:n.*1292A>G
ENST00000613048.4:c.1978A>G	ENSP00000484154.1:p.Thr660Ala
NM_000141.4:c.2245A>G	NP_000132.3:p.Thr749Ala
NM_001144913.1:c.2248A>G	NP_001138385.1:p.Thr750Ala
NM_001144914.1:c.1909A>G	NP_001138386.1:p.Thr637Ala
NM_001144915.1:c.1978A>G	NP_001138387.1:p.Thr660Ala
NM_001144916.1:c.1900A>G	NP_001138388.1:p.Thr634Ala
NM_001144917.1:c.1897A>G	NP_001138389.1:p.Thr633Ala
NM_001144918.1:c.1894A>G	NP_001138390.1:p.Thr632Ala
NM_001144919.1:c.1981A>G	NP_001138391.1:p.Thr661Ala
NM_022970.3:c.2248A>G	NP_075259.4:p.Thr750Ala
NM_023029.2:c.1978A>G	NP_075418.1:p.Thr660Ala
NR_073009.1:n.2695A>G
XM_006717708.2:c.2299A>G	XP_006717771.1:p.Thr767Ala
XM_006717709.2:c.2296A>G	XP_006717772.1:p.Thr766Ala
XM_006717710.2:c.2305A>G	XP_006717773.1:p.Thr769Ala
XM_006717711.2:c.2038A>G	XP_006717774.1:p.Thr680Ala
XM_006717712.2:c.1960A>G	XP_006717775.1:p.Thr654Ala
XM_006717713.2:c.2302A>G	XP_006717776.1:p.Thr768Ala
XM_011539510.1:c.1561A>G	XP_011537812.1:p.Thr521Ala
NM_001320654.1:c.1561A>G	NP_001307583.1:p.Thr521Ala
NM_001320658.1:c.2239A>G	NP_001307587.1:p.Thr747Ala
XM_006717708.3:c.2299A>G	XP_006717771.1:p.Thr767Ala
XM_006717710.4:c.2305A>G	XP_006717773.1:p.Thr769Ala
XM_017015920.2:c.2299A>G	XP_016871409.1:p.Thr767Ala
XM_017015921.2:c.2296A>G	XP_016871410.1:p.Thr766Ala
XM_017015924.2:c.1957A>G	XP_016871413.1:p.Thr653Ala
XM_017015925.2:c.1951A>G	XP_016871414.1:p.Thr651Ala
XM_024447887.1:c.2035A>G	XP_024303655.1:p.Thr679Ala
XM_024447888.1:c.2032A>G	XP_024303656.1:p.Thr678Ala
XM_024447889.1:c.2029A>G	XP_024303657.1:p.Thr677Ala
XM_024447890.1:c.2038A>G	XP_024303658.1:p.Thr680Ala
XM_024447891.1:c.1960A>G	XP_024303659.1:p.Thr654Ala
XM_024447892.1:c.1075A>G	XP_024303660.1:p.Thr359Ala
NM_000141.5:c.2245A>G MANE Select	NP_000132.3:p.Thr749Ala
NM_001144917.2:c.1897A>G	NP_001138389.1:p.Thr633Ala
NM_001144918.2:c.1894A>G	NP_001138390.1:p.Thr632Ala
NM_001144919.2:c.1981A>G	NP_001138391.1:p.Thr661Ala
NM_001320658.2:c.2239A>G	NP_001307587.1:p.Thr747Ala
NR_073009.2:n.2681A>G
NM_001144915.2:c.1978A>G	NP_001138387.1:p.Thr660Ala
NM_001144916.2:c.1900A>G	NP_001138388.1:p.Thr634Ala
NM_001320654.2:c.1561A>G	NP_001307583.1:p.Thr521Ala