Canonical Allele Identifier: CA5720689

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498530T>G , CM000672.2:g.121498530T>G	GRCh38
NC_000010.10:g.123258044T>G , CM000672.1:g.123258044T>G	GRCh37
NC_000010.9:g.123248034T>G	NCBI36
NG_012449.1:g.104929A>C
NG_012449.2:g.104929A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.1637A>C MANE Select	NP_000132.3:p.Asn546Thr
ENST00000358487.10:c.1637A>C MANE Select	ENSP00000351276.6:p.Asn546Thr
ENST00000457416.7:c.1640A>C MANE Plus Clinical	ENSP00000410294.2:p.Asn547Thr
NM_000141.4:c.1637A>C	NP_000132.3:p.Asn546Thr
NM_001144913.1:c.1640A>C	NP_001138385.1:p.Asn547Thr
NM_001144914.1:c.1301A>C	NP_001138386.1:p.Asn434Thr
NM_001144915.1:c.1370A>C	NP_001138387.1:p.Asn457Thr
NM_001144915.2:c.1370A>C	NP_001138387.1:p.Asn457Thr
NM_001144916.1:c.1292A>C	NP_001138388.1:p.Asn431Thr
NM_001144916.2:c.1292A>C	NP_001138388.1:p.Asn431Thr
NM_001144917.1:c.1289A>C	NP_001138389.1:p.Asn430Thr
NM_001144917.2:c.1289A>C	NP_001138389.1:p.Asn430Thr
NM_001144918.1:c.1286A>C	NP_001138390.1:p.Asn429Thr
NM_001144918.2:c.1286A>C	NP_001138390.1:p.Asn429Thr
NM_001144919.1:c.1373A>C	NP_001138391.1:p.Asn458Thr
NM_001144919.2:c.1373A>C	NP_001138391.1:p.Asn458Thr
NM_001320654.1:c.953A>C	NP_001307583.1:p.Asn318Thr
NM_001320654.2:c.953A>C	NP_001307583.1:p.Asn318Thr
NM_001320658.1:c.1631A>C	NP_001307587.1:p.Asn544Thr
NM_001320658.2:c.1631A>C	NP_001307587.1:p.Asn544Thr
NM_022970.3:c.1640A>C	NP_075259.4:p.Asn547Thr
NM_023029.2:c.1370A>C	NP_075418.1:p.Asn457Thr
NR_073009.1:n.2087A>C
NR_073009.2:n.2073A>C
ENST00000336553.10:c.1364A>C	ENSP00000337665.6:p.Asn455Thr
ENST00000346997.6:c.1631A>C	ENSP00000263451.5:p.Asn544Thr
ENST00000351936.10:c.1637A>C	ENSP00000309878.9:p.Asn546Thr
ENST00000351936.11:c.1631A>C	ENSP00000309878.10:p.Asn544Thr
ENST00000356226.8:c.1286A>C	ENSP00000348559.4:p.Asn429Thr
ENST00000357555.9:c.1370A>C	ENSP00000350166.5:p.Asn457Thr
ENST00000358487.9:c.1637A>C	ENSP00000351276.5:p.Asn546Thr
ENST00000360144.7:c.1373A>C	ENSP00000353262.3:p.Asn458Thr
ENST00000369056.5:c.1640A>C	ENSP00000358052.1:p.Asn547Thr
ENST00000369058.7:c.1640A>C	ENSP00000358054.3:p.Asn547Thr
ENST00000369059.5:c.1295A>C	ENSP00000358055.1:p.Asn432Thr
ENST00000369060.8:c.1289A>C	ENSP00000358056.4:p.Asn430Thr
ENST00000369061.8:c.1301A>C	ENSP00000358057.4:p.Asn434Thr
ENST00000429361.5:c.413A>C	ENSP00000404219.1:p.Asn138Thr
ENST00000457416.6:c.1640A>C	ENSP00000410294.2:p.Asn547Thr
ENST00000478859.5:c.953A>C	ENSP00000474011.1:p.Asn318Thr
ENST00000604236.5:c.*684A>C	ENSP00000474109.1:n.*684A>C
ENST00000613048.4:c.1370A>C	ENSP00000484154.1:p.Asn457Thr
ENST00000638709.2:c.461A>C	ENSP00000491912.2:p.Asn154Thr
ENST00000682296.1:n.979A>C
ENST00000682550.1:c.1286A>C	ENSP00000507633.1:p.Asn429Thr
ENST00000682772.1:c.461A>C	ENSP00000506848.1:p.Asn154Thr
ENST00000682904.1:n.457A>C
ENST00000683211.1:c.1631A>C	ENSP00000508257.1:p.Asn544Thr
ENST00000683250.1:c.*339A>C	ENSP00000506847.1:n.*339A>C
ENST00000683418.1:n.3978A>C
ENST00000684153.1:c.1286A>C	ENSP00000506937.1:p.Asn429Thr
ENST00000684516.1:n.2650A>C
XM_006717708.2:c.1691A>C	XP_006717771.1:p.Asn564Thr
XM_006717708.3:c.1691A>C	XP_006717771.1:p.Asn564Thr
XM_006717709.2:c.1688A>C	XP_006717772.1:p.Asn563Thr
XM_006717710.2:c.1697A>C	XP_006717773.1:p.Asn566Thr
XM_006717710.4:c.1697A>C	XP_006717773.1:p.Asn566Thr
XM_006717711.2:c.1430A>C	XP_006717774.1:p.Asn477Thr
XM_006717712.2:c.1352A>C	XP_006717775.1:p.Asn451Thr
XM_006717713.2:c.1694A>C	XP_006717776.1:p.Asn565Thr
XM_011539510.1:c.953A>C	XP_011537812.1:p.Asn318Thr
XM_017015920.2:c.1691A>C	XP_016871409.1:p.Asn564Thr
XM_017015921.2:c.1688A>C	XP_016871410.1:p.Asn563Thr
XM_017015924.2:c.1349A>C	XP_016871413.1:p.Asn450Thr
XM_017015925.2:c.1343A>C	XP_016871414.1:p.Asn448Thr
XM_024447887.1:c.1427A>C	XP_024303655.1:p.Asn476Thr
XM_024447888.1:c.1424A>C	XP_024303656.1:p.Asn475Thr
XM_024447889.1:c.1421A>C	XP_024303657.1:p.Asn474Thr
XM_024447890.1:c.1430A>C	XP_024303658.1:p.Asn477Thr
XM_024447891.1:c.1352A>C	XP_024303659.1:p.Asn451Thr
XM_024447892.1:c.467A>C	XP_024303660.1:p.Asn156Thr