Canonical Allele Identifier: CA378314039

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123247507T>A (hg19) ; chr10:g.121487993T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121487993T>A , CM000672.2:g.121487993T>A	GRCh38
NC_000010.10:g.123247507T>A , CM000672.1:g.123247507T>A	GRCh37
NC_000010.9:g.123237497T>A	NCBI36
NG_012449.1:g.115466A>T
NG_012449.2:g.115466A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1987A>T MANE Plus Clinical	ENSP00000410294.2:p.Asn663Tyr
ENST00000351936.11:c.1978A>T	ENSP00000309878.10:p.Asn660Tyr
ENST00000638709.2:c.808A>T	ENSP00000491912.2:p.Asn270Tyr
ENST00000682296.1:n.1326A>T
ENST00000682550.1:c.1633A>T	ENSP00000507633.1:p.Asn545Tyr
ENST00000682772.1:c.808A>T	ENSP00000506848.1:p.Asn270Tyr
ENST00000682904.1:n.804A>T
ENST00000683029.1:n.396A>T
ENST00000683211.1:c.1978A>T	ENSP00000508257.1:p.Asn660Tyr
ENST00000683250.1:c.*686A>T	ENSP00000506847.1:n.*686A>T
ENST00000683418.1:n.4325A>T
ENST00000684153.1:c.1633A>T	ENSP00000506937.1:p.Asn545Tyr
ENST00000684516.1:n.2997A>T
ENST00000358487.10:c.1984A>T MANE Select	ENSP00000351276.6:p.Asn662Tyr
ENST00000336553.10:c.1711A>T	ENSP00000337665.6:p.Asn571Tyr
ENST00000346997.6:c.1978A>T	ENSP00000263451.5:p.Asn660Tyr
ENST00000351936.10:c.1984A>T	ENSP00000309878.9:p.Asn662Tyr
ENST00000356226.8:c.1633A>T	ENSP00000348559.4:p.Asn545Tyr
ENST00000357555.9:c.1717A>T	ENSP00000350166.5:p.Asn573Tyr
ENST00000358487.9:c.1984A>T	ENSP00000351276.5:p.Asn662Tyr
ENST00000360144.7:c.1720A>T	ENSP00000353262.3:p.Asn574Tyr
ENST00000369056.5:c.1987A>T	ENSP00000358052.1:p.Asn663Tyr
ENST00000369058.7:c.1987A>T	ENSP00000358054.3:p.Asn663Tyr
ENST00000369059.5:c.1642A>T	ENSP00000358055.1:p.Asn548Tyr
ENST00000369060.8:c.1636A>T	ENSP00000358056.4:p.Asn546Tyr
ENST00000369061.8:c.1648A>T	ENSP00000358057.4:p.Asn550Tyr
ENST00000429361.5:c.760A>T	ENSP00000404219.1:p.Asn254Tyr
ENST00000457416.6:c.1987A>T	ENSP00000410294.2:p.Asn663Tyr
ENST00000478859.5:c.1300A>T	ENSP00000474011.1:p.Asn434Tyr
ENST00000604236.5:c.*1031A>T	ENSP00000474109.1:n.*1031A>T
ENST00000613048.4:c.1717A>T	ENSP00000484154.1:p.Asn573Tyr
NM_000141.4:c.1984A>T	NP_000132.3:p.Asn662Tyr
NM_001144913.1:c.1987A>T	NP_001138385.1:p.Asn663Tyr
NM_001144914.1:c.1648A>T	NP_001138386.1:p.Asn550Tyr
NM_001144915.1:c.1717A>T	NP_001138387.1:p.Asn573Tyr
NM_001144916.1:c.1639A>T	NP_001138388.1:p.Asn547Tyr
NM_001144917.1:c.1636A>T	NP_001138389.1:p.Asn546Tyr
NM_001144918.1:c.1633A>T	NP_001138390.1:p.Asn545Tyr
NM_001144919.1:c.1720A>T	NP_001138391.1:p.Asn574Tyr
NM_022970.3:c.1987A>T	NP_075259.4:p.Asn663Tyr
NM_023029.2:c.1717A>T	NP_075418.1:p.Asn573Tyr
NR_073009.1:n.2434A>T
XM_006717708.2:c.2038A>T	XP_006717771.1:p.Asn680Tyr
XM_006717709.2:c.2035A>T	XP_006717772.1:p.Asn679Tyr
XM_006717710.2:c.2044A>T	XP_006717773.1:p.Asn682Tyr
XM_006717711.2:c.1777A>T	XP_006717774.1:p.Asn593Tyr
XM_006717712.2:c.1699A>T	XP_006717775.1:p.Asn567Tyr
XM_006717713.2:c.2041A>T	XP_006717776.1:p.Asn681Tyr
XM_011539510.1:c.1300A>T	XP_011537812.1:p.Asn434Tyr
NM_001320654.1:c.1300A>T	NP_001307583.1:p.Asn434Tyr
NM_001320658.1:c.1978A>T	NP_001307587.1:p.Asn660Tyr
XM_006717708.3:c.2038A>T	XP_006717771.1:p.Asn680Tyr
XM_006717710.4:c.2044A>T	XP_006717773.1:p.Asn682Tyr
XM_017015920.2:c.2038A>T	XP_016871409.1:p.Asn680Tyr
XM_017015921.2:c.2035A>T	XP_016871410.1:p.Asn679Tyr
XM_017015924.2:c.1696A>T	XP_016871413.1:p.Asn566Tyr
XM_017015925.2:c.1690A>T	XP_016871414.1:p.Asn564Tyr
XM_024447887.1:c.1774A>T	XP_024303655.1:p.Asn592Tyr
XM_024447888.1:c.1771A>T	XP_024303656.1:p.Asn591Tyr
XM_024447889.1:c.1768A>T	XP_024303657.1:p.Asn590Tyr
XM_024447890.1:c.1777A>T	XP_024303658.1:p.Asn593Tyr
XM_024447891.1:c.1699A>T	XP_024303659.1:p.Asn567Tyr
XM_024447892.1:c.814A>T	XP_024303660.1:p.Asn272Tyr
NM_000141.5:c.1984A>T MANE Select	NP_000132.3:p.Asn662Tyr
NM_001144917.2:c.1636A>T	NP_001138389.1:p.Asn546Tyr
NM_001144918.2:c.1633A>T	NP_001138390.1:p.Asn545Tyr
NM_001144919.2:c.1720A>T	NP_001138391.1:p.Asn574Tyr
NM_001320658.2:c.1978A>T	NP_001307587.1:p.Asn660Tyr
NR_073009.2:n.2420A>T
NM_001144915.2:c.1717A>T	NP_001138387.1:p.Asn573Tyr
NM_001144916.2:c.1639A>T	NP_001138388.1:p.Asn547Tyr
NM_001320654.2:c.1300A>T	NP_001307583.1:p.Asn434Tyr