Canonical Allele Identifier: CA378314863

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123247592C>A (hg19) ; chr10:g.121488078C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488078C>A , CM000672.2:g.121488078C>A	GRCh38
NC_000010.10:g.123247592C>A , CM000672.1:g.123247592C>A	GRCh37
NC_000010.9:g.123237582C>A	NCBI36
NG_012449.1:g.115381G>T
NG_012449.2:g.115381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1902G>T MANE Plus Clinical	ENSP00000410294.2:p.Leu634Phe
ENST00000351936.11:c.1893G>T	ENSP00000309878.10:p.Leu631Phe
ENST00000638709.2:c.723G>T	ENSP00000491912.2:p.Leu241Phe
ENST00000682296.1:n.1241G>T
ENST00000682550.1:c.1548G>T	ENSP00000507633.1:p.Leu516Phe
ENST00000682772.1:c.723G>T	ENSP00000506848.1:p.Leu241Phe
ENST00000682904.1:n.719G>T
ENST00000683029.1:n.311G>T
ENST00000683211.1:c.1893G>T	ENSP00000508257.1:p.Leu631Phe
ENST00000683250.1:c.*601G>T	ENSP00000506847.1:n.*601G>T
ENST00000683418.1:n.4240G>T
ENST00000684153.1:c.1548G>T	ENSP00000506937.1:p.Leu516Phe
ENST00000684516.1:n.2912G>T
ENST00000358487.10:c.1899G>T MANE Select	ENSP00000351276.6:p.Leu633Phe
ENST00000336553.10:c.1626G>T	ENSP00000337665.6:p.Leu542Phe
ENST00000346997.6:c.1893G>T	ENSP00000263451.5:p.Leu631Phe
ENST00000351936.10:c.1899G>T	ENSP00000309878.9:p.Leu633Phe
ENST00000356226.8:c.1548G>T	ENSP00000348559.4:p.Leu516Phe
ENST00000357555.9:c.1632G>T	ENSP00000350166.5:p.Leu544Phe
ENST00000358487.9:c.1899G>T	ENSP00000351276.5:p.Leu633Phe
ENST00000360144.7:c.1635G>T	ENSP00000353262.3:p.Leu545Phe
ENST00000369056.5:c.1902G>T	ENSP00000358052.1:p.Leu634Phe
ENST00000369058.7:c.1902G>T	ENSP00000358054.3:p.Leu634Phe
ENST00000369059.5:c.1557G>T	ENSP00000358055.1:p.Leu519Phe
ENST00000369060.8:c.1551G>T	ENSP00000358056.4:p.Leu517Phe
ENST00000369061.8:c.1563G>T	ENSP00000358057.4:p.Leu521Phe
ENST00000429361.5:c.675G>T	ENSP00000404219.1:p.Leu225Phe
ENST00000457416.6:c.1902G>T	ENSP00000410294.2:p.Leu634Phe
ENST00000478859.5:c.1215G>T	ENSP00000474011.1:p.Leu405Phe
ENST00000604236.5:c.*946G>T	ENSP00000474109.1:n.*946G>T
ENST00000613048.4:c.1632G>T	ENSP00000484154.1:p.Leu544Phe
NM_000141.4:c.1899G>T	NP_000132.3:p.Leu633Phe
NM_001144913.1:c.1902G>T	NP_001138385.1:p.Leu634Phe
NM_001144914.1:c.1563G>T	NP_001138386.1:p.Leu521Phe
NM_001144915.1:c.1632G>T	NP_001138387.1:p.Leu544Phe
NM_001144916.1:c.1554G>T	NP_001138388.1:p.Leu518Phe
NM_001144917.1:c.1551G>T	NP_001138389.1:p.Leu517Phe
NM_001144918.1:c.1548G>T	NP_001138390.1:p.Leu516Phe
NM_001144919.1:c.1635G>T	NP_001138391.1:p.Leu545Phe
NM_022970.3:c.1902G>T	NP_075259.4:p.Leu634Phe
NM_023029.2:c.1632G>T	NP_075418.1:p.Leu544Phe
NR_073009.1:n.2349G>T
XM_006717708.2:c.1953G>T	XP_006717771.1:p.Leu651Phe
XM_006717709.2:c.1950G>T	XP_006717772.1:p.Leu650Phe
XM_006717710.2:c.1959G>T	XP_006717773.1:p.Leu653Phe
XM_006717711.2:c.1692G>T	XP_006717774.1:p.Leu564Phe
XM_006717712.2:c.1614G>T	XP_006717775.1:p.Leu538Phe
XM_006717713.2:c.1956G>T	XP_006717776.1:p.Leu652Phe
XM_011539510.1:c.1215G>T	XP_011537812.1:p.Leu405Phe
NM_001320654.1:c.1215G>T	NP_001307583.1:p.Leu405Phe
NM_001320658.1:c.1893G>T	NP_001307587.1:p.Leu631Phe
XM_006717708.3:c.1953G>T	XP_006717771.1:p.Leu651Phe
XM_006717710.4:c.1959G>T	XP_006717773.1:p.Leu653Phe
XM_017015920.2:c.1953G>T	XP_016871409.1:p.Leu651Phe
XM_017015921.2:c.1950G>T	XP_016871410.1:p.Leu650Phe
XM_017015924.2:c.1611G>T	XP_016871413.1:p.Leu537Phe
XM_017015925.2:c.1605G>T	XP_016871414.1:p.Leu535Phe
XM_024447887.1:c.1689G>T	XP_024303655.1:p.Leu563Phe
XM_024447888.1:c.1686G>T	XP_024303656.1:p.Leu562Phe
XM_024447889.1:c.1683G>T	XP_024303657.1:p.Leu561Phe
XM_024447890.1:c.1692G>T	XP_024303658.1:p.Leu564Phe
XM_024447891.1:c.1614G>T	XP_024303659.1:p.Leu538Phe
XM_024447892.1:c.729G>T	XP_024303660.1:p.Leu243Phe
NM_000141.5:c.1899G>T MANE Select	NP_000132.3:p.Leu633Phe
NM_001144917.2:c.1551G>T	NP_001138389.1:p.Leu517Phe
NM_001144918.2:c.1548G>T	NP_001138390.1:p.Leu516Phe
NM_001144919.2:c.1635G>T	NP_001138391.1:p.Leu545Phe
NM_001320658.2:c.1893G>T	NP_001307587.1:p.Leu631Phe
NR_073009.2:n.2335G>T
NM_001144915.2:c.1632G>T	NP_001138387.1:p.Leu544Phe
NM_001144916.2:c.1554G>T	NP_001138388.1:p.Leu518Phe
NM_001320654.2:c.1215G>T	NP_001307583.1:p.Leu405Phe