Canonical Allele Identifier: CA378313044

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121487358C>A , CM000672.2:g.121487358C>A	GRCh38
NC_000010.10:g.123246872C>A , CM000672.1:g.123246872C>A	GRCh37
NC_000010.9:g.123236862C>A	NCBI36
NG_012449.1:g.116101G>T
NG_012449.2:g.116101G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.2053G>T MANE Select	NP_000132.3:p.Asp685Tyr
ENST00000358487.10:c.2053G>T MANE Select	ENSP00000351276.6:p.Asp685Tyr
ENST00000457416.7:c.2056G>T MANE Plus Clinical	ENSP00000410294.2:p.Asp686Tyr
NM_000141.4:c.2053G>T	NP_000132.3:p.Asp685Tyr
NM_001144913.1:c.2056G>T	NP_001138385.1:p.Asp686Tyr
NM_001144914.1:c.1717G>T	NP_001138386.1:p.Asp573Tyr
NM_001144915.1:c.1786G>T	NP_001138387.1:p.Asp596Tyr
NM_001144915.2:c.1786G>T	NP_001138387.1:p.Asp596Tyr
NM_001144916.1:c.1708G>T	NP_001138388.1:p.Asp570Tyr
NM_001144916.2:c.1708G>T	NP_001138388.1:p.Asp570Tyr
NM_001144917.1:c.1705G>T	NP_001138389.1:p.Asp569Tyr
NM_001144917.2:c.1705G>T	NP_001138389.1:p.Asp569Tyr
NM_001144918.1:c.1702G>T	NP_001138390.1:p.Asp568Tyr
NM_001144918.2:c.1702G>T	NP_001138390.1:p.Asp568Tyr
NM_001144919.1:c.1789G>T	NP_001138391.1:p.Asp597Tyr
NM_001144919.2:c.1789G>T	NP_001138391.1:p.Asp597Tyr
NM_001320654.1:c.1369G>T	NP_001307583.1:p.Asp457Tyr
NM_001320654.2:c.1369G>T	NP_001307583.1:p.Asp457Tyr
NM_001320658.1:c.2047G>T	NP_001307587.1:p.Asp683Tyr
NM_001320658.2:c.2047G>T	NP_001307587.1:p.Asp683Tyr
NM_022970.3:c.2056G>T	NP_075259.4:p.Asp686Tyr
NM_023029.2:c.1786G>T	NP_075418.1:p.Asp596Tyr
NR_073009.1:n.2503G>T
NR_073009.2:n.2489G>T
ENST00000336553.10:c.1780G>T	ENSP00000337665.6:p.Asp594Tyr
ENST00000346997.6:c.2047G>T	ENSP00000263451.5:p.Asp683Tyr
ENST00000351936.10:c.2053G>T	ENSP00000309878.9:p.Asp685Tyr
ENST00000351936.11:c.2047G>T	ENSP00000309878.10:p.Asp683Tyr
ENST00000356226.8:c.1702G>T	ENSP00000348559.4:p.Asp568Tyr
ENST00000357555.9:c.1786G>T	ENSP00000350166.5:p.Asp596Tyr
ENST00000358487.9:c.2053G>T	ENSP00000351276.5:p.Asp685Tyr
ENST00000360144.7:c.1789G>T	ENSP00000353262.3:p.Asp597Tyr
ENST00000369056.5:c.2056G>T	ENSP00000358052.1:p.Asp686Tyr
ENST00000369058.7:c.2056G>T	ENSP00000358054.3:p.Asp686Tyr
ENST00000369059.5:c.1711G>T	ENSP00000358055.1:p.Asp571Tyr
ENST00000369060.8:c.1705G>T	ENSP00000358056.4:p.Asp569Tyr
ENST00000369061.8:c.1717G>T	ENSP00000358057.4:p.Asp573Tyr
ENST00000429361.5:c.829G>T	ENSP00000404219.1:p.Asp277Tyr
ENST00000457416.6:c.2056G>T	ENSP00000410294.2:p.Asp686Tyr
ENST00000478859.5:c.1369G>T	ENSP00000474011.1:p.Asp457Tyr
ENST00000604236.5:c.*1100G>T	ENSP00000474109.1:n.*1100G>T
ENST00000613048.4:c.1786G>T	ENSP00000484154.1:p.Asp596Tyr
ENST00000638709.2:c.877G>T	ENSP00000491912.2:p.Asp293Tyr
ENST00000682296.1:n.1395G>T
ENST00000682550.1:c.1702G>T	ENSP00000507633.1:p.Asp568Tyr
ENST00000682772.1:c.877G>T	ENSP00000506848.1:p.Asp293Tyr
ENST00000682904.1:n.873G>T
ENST00000683029.1:n.465G>T
ENST00000683211.1:c.2047G>T	ENSP00000508257.1:p.Asp683Tyr
ENST00000683250.1:c.*755G>T	ENSP00000506847.1:n.*755G>T
ENST00000683418.1:n.4394G>T
ENST00000684153.1:c.1702G>T	ENSP00000506937.1:p.Asp568Tyr
ENST00000684516.1:n.3066G>T
XM_006717708.2:c.2107G>T	XP_006717771.1:p.Asp703Tyr
XM_006717708.3:c.2107G>T	XP_006717771.1:p.Asp703Tyr
XM_006717709.2:c.2104G>T	XP_006717772.1:p.Asp702Tyr
XM_006717710.2:c.2113G>T	XP_006717773.1:p.Asp705Tyr
XM_006717710.4:c.2113G>T	XP_006717773.1:p.Asp705Tyr
XM_006717711.2:c.1846G>T	XP_006717774.1:p.Asp616Tyr
XM_006717712.2:c.1768G>T	XP_006717775.1:p.Asp590Tyr
XM_006717713.2:c.2110G>T	XP_006717776.1:p.Asp704Tyr
XM_011539510.1:c.1369G>T	XP_011537812.1:p.Asp457Tyr
XM_017015920.2:c.2107G>T	XP_016871409.1:p.Asp703Tyr
XM_017015921.2:c.2104G>T	XP_016871410.1:p.Asp702Tyr
XM_017015924.2:c.1765G>T	XP_016871413.1:p.Asp589Tyr
XM_017015925.2:c.1759G>T	XP_016871414.1:p.Asp587Tyr
XM_024447887.1:c.1843G>T	XP_024303655.1:p.Asp615Tyr
XM_024447888.1:c.1840G>T	XP_024303656.1:p.Asp614Tyr
XM_024447889.1:c.1837G>T	XP_024303657.1:p.Asp613Tyr
XM_024447890.1:c.1846G>T	XP_024303658.1:p.Asp616Tyr
XM_024447891.1:c.1768G>T	XP_024303659.1:p.Asp590Tyr
XM_024447892.1:c.883G>T	XP_024303660.1:p.Asp295Tyr