Canonical Allele Identifier: CA378314063

Gene: FGFR2

Linked Data

• dbSNP Id: rs2133834509
• MyVariant Identifiers: chr10:g.123247509G>A (hg19) ; chr10:g.121487995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121487995G>A , CM000672.2:g.121487995G>A	GRCh38
NC_000010.10:g.123247509G>A , CM000672.1:g.123247509G>A	GRCh37
NC_000010.9:g.123237499G>A	NCBI36
NG_012449.1:g.115464C>T
NG_012449.2:g.115464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1985C>T MANE Plus Clinical	ENSP00000410294.2:p.Thr662Ile
ENST00000351936.11:c.1976C>T	ENSP00000309878.10:p.Thr659Ile
ENST00000638709.2:c.806C>T	ENSP00000491912.2:p.Thr269Ile
ENST00000682296.1:n.1324C>T
ENST00000682550.1:c.1631C>T	ENSP00000507633.1:p.Thr544Ile
ENST00000682772.1:c.806C>T	ENSP00000506848.1:p.Thr269Ile
ENST00000682904.1:n.802C>T
ENST00000683029.1:n.394C>T
ENST00000683211.1:c.1976C>T	ENSP00000508257.1:p.Thr659Ile
ENST00000683250.1:c.*684C>T	ENSP00000506847.1:n.*684C>T
ENST00000683418.1:n.4323C>T
ENST00000684153.1:c.1631C>T	ENSP00000506937.1:p.Thr544Ile
ENST00000684516.1:n.2995C>T
ENST00000358487.10:c.1982C>T MANE Select	ENSP00000351276.6:p.Thr661Ile
ENST00000336553.10:c.1709C>T	ENSP00000337665.6:p.Thr570Ile
ENST00000346997.6:c.1976C>T	ENSP00000263451.5:p.Thr659Ile
ENST00000351936.10:c.1982C>T	ENSP00000309878.9:p.Thr661Ile
ENST00000356226.8:c.1631C>T	ENSP00000348559.4:p.Thr544Ile
ENST00000357555.9:c.1715C>T	ENSP00000350166.5:p.Thr572Ile
ENST00000358487.9:c.1982C>T	ENSP00000351276.5:p.Thr661Ile
ENST00000360144.7:c.1718C>T	ENSP00000353262.3:p.Thr573Ile
ENST00000369056.5:c.1985C>T	ENSP00000358052.1:p.Thr662Ile
ENST00000369058.7:c.1985C>T	ENSP00000358054.3:p.Thr662Ile
ENST00000369059.5:c.1640C>T	ENSP00000358055.1:p.Thr547Ile
ENST00000369060.8:c.1634C>T	ENSP00000358056.4:p.Thr545Ile
ENST00000369061.8:c.1646C>T	ENSP00000358057.4:p.Thr549Ile
ENST00000429361.5:c.758C>T	ENSP00000404219.1:p.Thr253Ile
ENST00000457416.6:c.1985C>T	ENSP00000410294.2:p.Thr662Ile
ENST00000478859.5:c.1298C>T	ENSP00000474011.1:p.Thr433Ile
ENST00000604236.5:c.*1029C>T	ENSP00000474109.1:n.*1029C>T
ENST00000613048.4:c.1715C>T	ENSP00000484154.1:p.Thr572Ile
NM_000141.4:c.1982C>T	NP_000132.3:p.Thr661Ile
NM_001144913.1:c.1985C>T	NP_001138385.1:p.Thr662Ile
NM_001144914.1:c.1646C>T	NP_001138386.1:p.Thr549Ile
NM_001144915.1:c.1715C>T	NP_001138387.1:p.Thr572Ile
NM_001144916.1:c.1637C>T	NP_001138388.1:p.Thr546Ile
NM_001144917.1:c.1634C>T	NP_001138389.1:p.Thr545Ile
NM_001144918.1:c.1631C>T	NP_001138390.1:p.Thr544Ile
NM_001144919.1:c.1718C>T	NP_001138391.1:p.Thr573Ile
NM_022970.3:c.1985C>T	NP_075259.4:p.Thr662Ile
NM_023029.2:c.1715C>T	NP_075418.1:p.Thr572Ile
NR_073009.1:n.2432C>T
XM_006717708.2:c.2036C>T	XP_006717771.1:p.Thr679Ile
XM_006717709.2:c.2033C>T	XP_006717772.1:p.Thr678Ile
XM_006717710.2:c.2042C>T	XP_006717773.1:p.Thr681Ile
XM_006717711.2:c.1775C>T	XP_006717774.1:p.Thr592Ile
XM_006717712.2:c.1697C>T	XP_006717775.1:p.Thr566Ile
XM_006717713.2:c.2039C>T	XP_006717776.1:p.Thr680Ile
XM_011539510.1:c.1298C>T	XP_011537812.1:p.Thr433Ile
NM_001320654.1:c.1298C>T	NP_001307583.1:p.Thr433Ile
NM_001320658.1:c.1976C>T	NP_001307587.1:p.Thr659Ile
XM_006717708.3:c.2036C>T	XP_006717771.1:p.Thr679Ile
XM_006717710.4:c.2042C>T	XP_006717773.1:p.Thr681Ile
XM_017015920.2:c.2036C>T	XP_016871409.1:p.Thr679Ile
XM_017015921.2:c.2033C>T	XP_016871410.1:p.Thr678Ile
XM_017015924.2:c.1694C>T	XP_016871413.1:p.Thr565Ile
XM_017015925.2:c.1688C>T	XP_016871414.1:p.Thr563Ile
XM_024447887.1:c.1772C>T	XP_024303655.1:p.Thr591Ile
XM_024447888.1:c.1769C>T	XP_024303656.1:p.Thr590Ile
XM_024447889.1:c.1766C>T	XP_024303657.1:p.Thr589Ile
XM_024447890.1:c.1775C>T	XP_024303658.1:p.Thr592Ile
XM_024447891.1:c.1697C>T	XP_024303659.1:p.Thr566Ile
XM_024447892.1:c.812C>T	XP_024303660.1:p.Thr271Ile
NM_000141.5:c.1982C>T MANE Select	NP_000132.3:p.Thr661Ile
NM_001144917.2:c.1634C>T	NP_001138389.1:p.Thr545Ile
NM_001144918.2:c.1631C>T	NP_001138390.1:p.Thr544Ile
NM_001144919.2:c.1718C>T	NP_001138391.1:p.Thr573Ile
NM_001320658.2:c.1976C>T	NP_001307587.1:p.Thr659Ile
NR_073009.2:n.2418C>T
NM_001144915.2:c.1715C>T	NP_001138387.1:p.Thr572Ile
NM_001144916.2:c.1637C>T	NP_001138388.1:p.Thr546Ile
NM_001320654.2:c.1298C>T	NP_001307583.1:p.Thr433Ile