Canonical Allele Identifier: CA378315029

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123247611A>G (hg19) ; chr10:g.121488097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488097A>G , CM000672.2:g.121488097A>G	GRCh38
NC_000010.10:g.123247611A>G , CM000672.1:g.123247611A>G	GRCh37
NC_000010.9:g.123237601A>G	NCBI36
NG_012449.1:g.115362T>C
NG_012449.2:g.115362T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1883T>C MANE Plus Clinical	ENSP00000410294.2:p.Leu628Ser
ENST00000351936.11:c.1874T>C	ENSP00000309878.10:p.Leu625Ser
ENST00000638709.2:c.704T>C	ENSP00000491912.2:p.Leu235Ser
ENST00000682296.1:n.1222T>C
ENST00000682550.1:c.1529T>C	ENSP00000507633.1:p.Leu510Ser
ENST00000682772.1:c.704T>C	ENSP00000506848.1:p.Leu235Ser
ENST00000682904.1:n.700T>C
ENST00000683029.1:n.292T>C
ENST00000683211.1:c.1874T>C	ENSP00000508257.1:p.Leu625Ser
ENST00000683250.1:c.*582T>C	ENSP00000506847.1:n.*582T>C
ENST00000683418.1:n.4221T>C
ENST00000684153.1:c.1529T>C	ENSP00000506937.1:p.Leu510Ser
ENST00000684516.1:n.2893T>C
ENST00000358487.10:c.1880T>C MANE Select	ENSP00000351276.6:p.Leu627Ser
ENST00000336553.10:c.1607T>C	ENSP00000337665.6:p.Leu536Ser
ENST00000346997.6:c.1874T>C	ENSP00000263451.5:p.Leu625Ser
ENST00000351936.10:c.1880T>C	ENSP00000309878.9:p.Leu627Ser
ENST00000356226.8:c.1529T>C	ENSP00000348559.4:p.Leu510Ser
ENST00000357555.9:c.1613T>C	ENSP00000350166.5:p.Leu538Ser
ENST00000358487.9:c.1880T>C	ENSP00000351276.5:p.Leu627Ser
ENST00000360144.7:c.1616T>C	ENSP00000353262.3:p.Leu539Ser
ENST00000369056.5:c.1883T>C	ENSP00000358052.1:p.Leu628Ser
ENST00000369058.7:c.1883T>C	ENSP00000358054.3:p.Leu628Ser
ENST00000369059.5:c.1538T>C	ENSP00000358055.1:p.Leu513Ser
ENST00000369060.8:c.1532T>C	ENSP00000358056.4:p.Leu511Ser
ENST00000369061.8:c.1544T>C	ENSP00000358057.4:p.Leu515Ser
ENST00000429361.5:c.656T>C	ENSP00000404219.1:p.Leu219Ser
ENST00000457416.6:c.1883T>C	ENSP00000410294.2:p.Leu628Ser
ENST00000478859.5:c.1196T>C	ENSP00000474011.1:p.Leu399Ser
ENST00000604236.5:c.*927T>C	ENSP00000474109.1:n.*927T>C
ENST00000613048.4:c.1613T>C	ENSP00000484154.1:p.Leu538Ser
NM_000141.4:c.1880T>C	NP_000132.3:p.Leu627Ser
NM_001144913.1:c.1883T>C	NP_001138385.1:p.Leu628Ser
NM_001144914.1:c.1544T>C	NP_001138386.1:p.Leu515Ser
NM_001144915.1:c.1613T>C	NP_001138387.1:p.Leu538Ser
NM_001144916.1:c.1535T>C	NP_001138388.1:p.Leu512Ser
NM_001144917.1:c.1532T>C	NP_001138389.1:p.Leu511Ser
NM_001144918.1:c.1529T>C	NP_001138390.1:p.Leu510Ser
NM_001144919.1:c.1616T>C	NP_001138391.1:p.Leu539Ser
NM_022970.3:c.1883T>C	NP_075259.4:p.Leu628Ser
NM_023029.2:c.1613T>C	NP_075418.1:p.Leu538Ser
NR_073009.1:n.2330T>C
XM_006717708.2:c.1934T>C	XP_006717771.1:p.Leu645Ser
XM_006717709.2:c.1931T>C	XP_006717772.1:p.Leu644Ser
XM_006717710.2:c.1940T>C	XP_006717773.1:p.Leu647Ser
XM_006717711.2:c.1673T>C	XP_006717774.1:p.Leu558Ser
XM_006717712.2:c.1595T>C	XP_006717775.1:p.Leu532Ser
XM_006717713.2:c.1937T>C	XP_006717776.1:p.Leu646Ser
XM_011539510.1:c.1196T>C	XP_011537812.1:p.Leu399Ser
NM_001320654.1:c.1196T>C	NP_001307583.1:p.Leu399Ser
NM_001320658.1:c.1874T>C	NP_001307587.1:p.Leu625Ser
XM_006717708.3:c.1934T>C	XP_006717771.1:p.Leu645Ser
XM_006717710.4:c.1940T>C	XP_006717773.1:p.Leu647Ser
XM_017015920.2:c.1934T>C	XP_016871409.1:p.Leu645Ser
XM_017015921.2:c.1931T>C	XP_016871410.1:p.Leu644Ser
XM_017015924.2:c.1592T>C	XP_016871413.1:p.Leu531Ser
XM_017015925.2:c.1586T>C	XP_016871414.1:p.Leu529Ser
XM_024447887.1:c.1670T>C	XP_024303655.1:p.Leu557Ser
XM_024447888.1:c.1667T>C	XP_024303656.1:p.Leu556Ser
XM_024447889.1:c.1664T>C	XP_024303657.1:p.Leu555Ser
XM_024447890.1:c.1673T>C	XP_024303658.1:p.Leu558Ser
XM_024447891.1:c.1595T>C	XP_024303659.1:p.Leu532Ser
XM_024447892.1:c.710T>C	XP_024303660.1:p.Leu237Ser
NM_000141.5:c.1880T>C MANE Select	NP_000132.3:p.Leu627Ser
NM_001144917.2:c.1532T>C	NP_001138389.1:p.Leu511Ser
NM_001144918.2:c.1529T>C	NP_001138390.1:p.Leu510Ser
NM_001144919.2:c.1616T>C	NP_001138391.1:p.Leu539Ser
NM_001320658.2:c.1874T>C	NP_001307587.1:p.Leu625Ser
NR_073009.2:n.2316T>C
NM_001144915.2:c.1613T>C	NP_001138387.1:p.Leu538Ser
NM_001144916.2:c.1535T>C	NP_001138388.1:p.Leu512Ser
NM_001320654.2:c.1196T>C	NP_001307583.1:p.Leu399Ser