Canonical Allele Identifier: CA378327633

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123276833C>A (hg19) ; chr10:g.121517319C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517319C>A , CM000672.2:g.121517319C>A	GRCh38
NC_000010.10:g.123276833C>A , CM000672.1:g.123276833C>A	GRCh37
NC_000010.9:g.123266823C>A	NCBI36
NG_012449.1:g.86140G>T
NG_012449.2:g.86140G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1087+1363G>T MANE Plus Clinical	ENSP00000410294.2:n.1087+1363G>T
ENST00000351936.11:c.1084G>T	ENSP00000309878.10:p.Ala362Ser
ENST00000638709.2:c.-87G>T	ENSP00000491912.2:n.-87G>T
ENST00000682296.1:n.432G>T
ENST00000682400.1:n.739G>T
ENST00000682550.1:c.739G>T	ENSP00000507633.1:p.Ala247Ser
ENST00000682772.1:c.-87G>T	ENSP00000506848.1:n.-87G>T
ENST00000683211.1:c.1084G>T	ENSP00000508257.1:p.Ala362Ser
ENST00000683250.1:c.404-13378G>T	ENSP00000506847.1:n.404-13378G>T
ENST00000683418.1:n.3431G>T
ENST00000683678.1:n.1084G>T
ENST00000684153.1:c.739G>T	ENSP00000506937.1:p.Ala247Ser
ENST00000358487.10:c.1084G>T MANE Select	ENSP00000351276.6:p.Ala362Ser
ENST00000336553.10:c.817G>T	ENSP00000337665.6:p.Ala273Ser
ENST00000346997.6:c.1084G>T	ENSP00000263451.5:p.Ala362Ser
ENST00000351936.10:c.1090G>T	ENSP00000309878.9:p.Ala364Ser
ENST00000356226.8:c.739G>T	ENSP00000348559.4:p.Ala247Ser
ENST00000357555.9:c.817G>T	ENSP00000350166.5:p.Ala273Ser
ENST00000358487.9:c.1084G>T	ENSP00000351276.5:p.Ala362Ser
ENST00000360144.7:c.820+1363G>T	ENSP00000353262.3:n.820+1363G>T
ENST00000369056.5:c.1087+1363G>T	ENSP00000358052.1:n.1087+1363G>T
ENST00000369058.7:c.1087+1363G>T	ENSP00000358054.3:n.1087+1363G>T
ENST00000369059.5:c.742+1363G>T	ENSP00000358055.1:n.742+1363G>T
ENST00000369060.8:c.939+2660G>T	ENSP00000358056.4:n.939+2660G>T
ENST00000369061.8:c.749-2000G>T	ENSP00000358057.4:n.749-2000G>T
ENST00000457416.6:c.1087+1363G>T	ENSP00000410294.2:n.1087+1363G>T
ENST00000463870.5:n.293G>T
ENST00000478859.5:c.400G>T	ENSP00000474011.1:p.Ala134Ser
ENST00000604236.5:c.*131G>T	ENSP00000474109.1:n.*131G>T
ENST00000613048.4:c.817G>T	ENSP00000484154.1:p.Ala273Ser
NM_000141.4:c.1084G>T	NP_000132.3:p.Ala362Ser
NM_001144913.1:c.1087+1363G>T	NP_001138385.1:n.1087+1363G>T
NM_001144914.1:c.749-2000G>T	NP_001138386.1:n.749-2000G>T
NM_001144915.1:c.817G>T	NP_001138387.1:p.Ala273Ser
NM_001144916.1:c.739G>T	NP_001138388.1:p.Ala247Ser
NM_001144917.1:c.939+2660G>T	NP_001138389.1:n.939+2660G>T
NM_001144918.1:c.739G>T	NP_001138390.1:p.Ala247Ser
NM_001144919.1:c.820+1363G>T	NP_001138391.1:n.820+1363G>T
NM_022970.3:c.1087+1363G>T	NP_075259.4:n.1087+1363G>T
NM_023029.2:c.817G>T	NP_075418.1:p.Ala273Ser
NR_073009.1:n.1534G>T
XM_006717708.2:c.1144+1363G>T	XP_006717771.1:n.1144+1363G>T
XM_006717709.2:c.1141G>T	XP_006717772.1:p.Ala381Ser
XM_006717710.2:c.1144+1363G>T	XP_006717773.1:n.1144+1363G>T
XM_006717711.2:c.877+1363G>T	XP_006717774.1:n.877+1363G>T
XM_006717712.2:c.799+1363G>T	XP_006717775.1:n.799+1363G>T
XM_006717713.2:c.1141G>T	XP_006717776.1:p.Ala381Ser
XM_011539510.1:c.400G>T	XP_011537812.1:p.Ala134Ser
NM_001320654.1:c.400G>T	NP_001307583.1:p.Ala134Ser
NM_001320658.1:c.1084G>T	NP_001307587.1:p.Ala362Ser
XM_006717708.3:c.1144+1363G>T	XP_006717771.1:n.1144+1363G>T
XM_006717710.4:c.1144+1363G>T	XP_006717773.1:n.1144+1363G>T
XM_017015920.2:c.1144+1363G>T	XP_016871409.1:n.1144+1363G>T
XM_017015921.2:c.1141G>T	XP_016871410.1:p.Ala381Ser
XM_017015924.2:c.796G>T	XP_016871413.1:p.Ala266Ser
XM_017015925.2:c.796G>T	XP_016871414.1:p.Ala266Ser
XM_024447887.1:c.874G>T	XP_024303655.1:p.Ala292Ser
XM_024447888.1:c.877+1363G>T	XP_024303656.1:n.877+1363G>T
XM_024447889.1:c.874G>T	XP_024303657.1:p.Ala292Ser
XM_024447890.1:c.877+1363G>T	XP_024303658.1:n.877+1363G>T
XM_024447891.1:c.799+1363G>T	XP_024303659.1:n.799+1363G>T
XM_024447892.1:c.-87G>T	XP_024303660.1:n.-87G>T
NM_000141.5:c.1084G>T MANE Select	NP_000132.3:p.Ala362Ser
NM_001144917.2:c.939+2660G>T	NP_001138389.1:n.939+2660G>T
NM_001144918.2:c.739G>T	NP_001138390.1:p.Ala247Ser
NM_001144919.2:c.820+1363G>T	NP_001138391.1:n.820+1363G>T
NM_001320658.2:c.1084G>T	NP_001307587.1:p.Ala362Ser
NR_073009.2:n.1520G>T
NM_001144915.2:c.817G>T	NP_001138387.1:p.Ala273Ser
NM_001144916.2:c.739G>T	NP_001138388.1:p.Ala247Ser
NM_001320654.2:c.400G>T	NP_001307583.1:p.Ala134Ser