Canonical Allele Identifier: CA378321623

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498567C>T , CM000672.2:g.121498567C>T	GRCh38
NC_000010.10:g.123258081C>T , CM000672.1:g.123258081C>T	GRCh37
NC_000010.9:g.123248071C>T	NCBI36
NG_012449.1:g.104892G>A
NG_012449.2:g.104892G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.1600G>A MANE Select	NP_000132.3:p.Glu534Lys
ENST00000358487.10:c.1600G>A MANE Select	ENSP00000351276.6:p.Glu534Lys
ENST00000457416.7:c.1603G>A MANE Plus Clinical	ENSP00000410294.2:p.Glu535Lys
NM_000141.4:c.1600G>A	NP_000132.3:p.Glu534Lys
NM_001144913.1:c.1603G>A	NP_001138385.1:p.Glu535Lys
NM_001144914.1:c.1264G>A	NP_001138386.1:p.Glu422Lys
NM_001144915.1:c.1333G>A	NP_001138387.1:p.Glu445Lys
NM_001144915.2:c.1333G>A	NP_001138387.1:p.Glu445Lys
NM_001144916.1:c.1255G>A	NP_001138388.1:p.Glu419Lys
NM_001144916.2:c.1255G>A	NP_001138388.1:p.Glu419Lys
NM_001144917.1:c.1252G>A	NP_001138389.1:p.Glu418Lys
NM_001144917.2:c.1252G>A	NP_001138389.1:p.Glu418Lys
NM_001144918.1:c.1249G>A	NP_001138390.1:p.Glu417Lys
NM_001144918.2:c.1249G>A	NP_001138390.1:p.Glu417Lys
NM_001144919.1:c.1336G>A	NP_001138391.1:p.Glu446Lys
NM_001144919.2:c.1336G>A	NP_001138391.1:p.Glu446Lys
NM_001320654.1:c.916G>A	NP_001307583.1:p.Glu306Lys
NM_001320654.2:c.916G>A	NP_001307583.1:p.Glu306Lys
NM_001320658.1:c.1594G>A	NP_001307587.1:p.Glu532Lys
NM_001320658.2:c.1594G>A	NP_001307587.1:p.Glu532Lys
NM_022970.3:c.1603G>A	NP_075259.4:p.Glu535Lys
NM_023029.2:c.1333G>A	NP_075418.1:p.Glu445Lys
NR_073009.1:n.2050G>A
NR_073009.2:n.2036G>A
ENST00000336553.10:c.1327G>A	ENSP00000337665.6:p.Glu443Lys
ENST00000346997.6:c.1594G>A	ENSP00000263451.5:p.Glu532Lys
ENST00000351936.10:c.1600G>A	ENSP00000309878.9:p.Glu534Lys
ENST00000351936.11:c.1594G>A	ENSP00000309878.10:p.Glu532Lys
ENST00000356226.8:c.1249G>A	ENSP00000348559.4:p.Glu417Lys
ENST00000357555.9:c.1333G>A	ENSP00000350166.5:p.Glu445Lys
ENST00000358487.9:c.1600G>A	ENSP00000351276.5:p.Glu534Lys
ENST00000360144.7:c.1336G>A	ENSP00000353262.3:p.Glu446Lys
ENST00000369056.5:c.1603G>A	ENSP00000358052.1:p.Glu535Lys
ENST00000369058.7:c.1603G>A	ENSP00000358054.3:p.Glu535Lys
ENST00000369059.5:c.1258G>A	ENSP00000358055.1:p.Glu420Lys
ENST00000369060.8:c.1252G>A	ENSP00000358056.4:p.Glu418Lys
ENST00000369061.8:c.1264G>A	ENSP00000358057.4:p.Glu422Lys
ENST00000429361.5:c.376G>A	ENSP00000404219.1:p.Glu126Lys
ENST00000457416.6:c.1603G>A	ENSP00000410294.2:p.Glu535Lys
ENST00000478859.5:c.916G>A	ENSP00000474011.1:p.Glu306Lys
ENST00000604236.5:c.*647G>A	ENSP00000474109.1:n.*647G>A
ENST00000613048.4:c.1333G>A	ENSP00000484154.1:p.Glu445Lys
ENST00000638709.2:c.424G>A	ENSP00000491912.2:p.Glu142Lys
ENST00000682296.1:n.942G>A
ENST00000682550.1:c.1249G>A	ENSP00000507633.1:p.Glu417Lys
ENST00000682772.1:c.424G>A	ENSP00000506848.1:p.Glu142Lys
ENST00000682904.1:n.420G>A
ENST00000683211.1:c.1594G>A	ENSP00000508257.1:p.Glu532Lys
ENST00000683250.1:c.*302G>A	ENSP00000506847.1:n.*302G>A
ENST00000683418.1:n.3941G>A
ENST00000684153.1:c.1249G>A	ENSP00000506937.1:p.Glu417Lys
ENST00000684516.1:n.2613G>A
XM_006717708.2:c.1654G>A	XP_006717771.1:p.Glu552Lys
XM_006717708.3:c.1654G>A	XP_006717771.1:p.Glu552Lys
XM_006717709.2:c.1651G>A	XP_006717772.1:p.Glu551Lys
XM_006717710.2:c.1660G>A	XP_006717773.1:p.Glu554Lys
XM_006717710.4:c.1660G>A	XP_006717773.1:p.Glu554Lys
XM_006717711.2:c.1393G>A	XP_006717774.1:p.Glu465Lys
XM_006717712.2:c.1315G>A	XP_006717775.1:p.Glu439Lys
XM_006717713.2:c.1657G>A	XP_006717776.1:p.Glu553Lys
XM_011539510.1:c.916G>A	XP_011537812.1:p.Glu306Lys
XM_017015920.2:c.1654G>A	XP_016871409.1:p.Glu552Lys
XM_017015921.2:c.1651G>A	XP_016871410.1:p.Glu551Lys
XM_017015924.2:c.1312G>A	XP_016871413.1:p.Glu438Lys
XM_017015925.2:c.1306G>A	XP_016871414.1:p.Glu436Lys
XM_024447887.1:c.1390G>A	XP_024303655.1:p.Glu464Lys
XM_024447888.1:c.1387G>A	XP_024303656.1:p.Glu463Lys
XM_024447889.1:c.1384G>A	XP_024303657.1:p.Glu462Lys
XM_024447890.1:c.1393G>A	XP_024303658.1:p.Glu465Lys
XM_024447891.1:c.1315G>A	XP_024303659.1:p.Glu439Lys
XM_024447892.1:c.430G>A	XP_024303660.1:p.Glu144Lys