Canonical Allele Identifier: CA378315138
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488109A>C , CM000672.2:g.121488109A>C GRCh38
NC_000010.10:g.123247623A>C , CM000672.1:g.123247623A>C GRCh37
NC_000010.9:g.123237613A>C NCBI36
NG_012449.1:g.115350T>G
NG_012449.2:g.115350T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1871T>G MANE Plus Clinical ENSP00000410294.2:p.Ile624Ser
ENST00000351936.11:c.1862T>G ENSP00000309878.10:p.Ile621Ser
ENST00000638709.2:c.692T>G ENSP00000491912.2:p.Ile231Ser
ENST00000682296.1:n.1210T>G
ENST00000682550.1:c.1517T>G ENSP00000507633.1:p.Ile506Ser
ENST00000682772.1:c.692T>G ENSP00000506848.1:p.Ile231Ser
ENST00000682904.1:n.688T>G
ENST00000683029.1:n.280T>G
ENST00000683211.1:c.1862T>G ENSP00000508257.1:p.Ile621Ser
ENST00000683250.1:c.*570T>G ENSP00000506847.1:n.*570T>G
ENST00000683418.1:n.4209T>G
ENST00000684153.1:c.1517T>G ENSP00000506937.1:p.Ile506Ser
ENST00000684516.1:n.2881T>G
ENST00000358487.10:c.1868T>G MANE Select ENSP00000351276.6:p.Ile623Ser
ENST00000336553.10:c.1595T>G ENSP00000337665.6:p.Ile532Ser
ENST00000346997.6:c.1862T>G ENSP00000263451.5:p.Ile621Ser
ENST00000351936.10:c.1868T>G ENSP00000309878.9:p.Ile623Ser
ENST00000356226.8:c.1517T>G ENSP00000348559.4:p.Ile506Ser
ENST00000357555.9:c.1601T>G ENSP00000350166.5:p.Ile534Ser
ENST00000358487.9:c.1868T>G ENSP00000351276.5:p.Ile623Ser
ENST00000360144.7:c.1604T>G ENSP00000353262.3:p.Ile535Ser
ENST00000369056.5:c.1871T>G ENSP00000358052.1:p.Ile624Ser
ENST00000369058.7:c.1871T>G ENSP00000358054.3:p.Ile624Ser
ENST00000369059.5:c.1526T>G ENSP00000358055.1:p.Ile509Ser
ENST00000369060.8:c.1520T>G ENSP00000358056.4:p.Ile507Ser
ENST00000369061.8:c.1532T>G ENSP00000358057.4:p.Ile511Ser
ENST00000429361.5:c.644T>G ENSP00000404219.1:p.Ile215Ser
ENST00000457416.6:c.1871T>G ENSP00000410294.2:p.Ile624Ser
ENST00000478859.5:c.1184T>G ENSP00000474011.1:p.Ile395Ser
ENST00000604236.5:c.*915T>G ENSP00000474109.1:n.*915T>G
ENST00000613048.4:c.1601T>G ENSP00000484154.1:p.Ile534Ser
NM_000141.4:c.1868T>G NP_000132.3:p.Ile623Ser
NM_001144913.1:c.1871T>G NP_001138385.1:p.Ile624Ser
NM_001144914.1:c.1532T>G NP_001138386.1:p.Ile511Ser
NM_001144915.1:c.1601T>G NP_001138387.1:p.Ile534Ser
NM_001144916.1:c.1523T>G NP_001138388.1:p.Ile508Ser
NM_001144917.1:c.1520T>G NP_001138389.1:p.Ile507Ser
NM_001144918.1:c.1517T>G NP_001138390.1:p.Ile506Ser
NM_001144919.1:c.1604T>G NP_001138391.1:p.Ile535Ser
NM_022970.3:c.1871T>G NP_075259.4:p.Ile624Ser
NM_023029.2:c.1601T>G NP_075418.1:p.Ile534Ser
NR_073009.1:n.2318T>G
XM_006717708.2:c.1922T>G XP_006717771.1:p.Ile641Ser
XM_006717709.2:c.1919T>G XP_006717772.1:p.Ile640Ser
XM_006717710.2:c.1928T>G XP_006717773.1:p.Ile643Ser
XM_006717711.2:c.1661T>G XP_006717774.1:p.Ile554Ser
XM_006717712.2:c.1583T>G XP_006717775.1:p.Ile528Ser
XM_006717713.2:c.1925T>G XP_006717776.1:p.Ile642Ser
XM_011539510.1:c.1184T>G XP_011537812.1:p.Ile395Ser
NM_001320654.1:c.1184T>G NP_001307583.1:p.Ile395Ser
NM_001320658.1:c.1862T>G NP_001307587.1:p.Ile621Ser
XM_006717708.3:c.1922T>G XP_006717771.1:p.Ile641Ser
XM_006717710.4:c.1928T>G XP_006717773.1:p.Ile643Ser
XM_017015920.2:c.1922T>G XP_016871409.1:p.Ile641Ser
XM_017015921.2:c.1919T>G XP_016871410.1:p.Ile640Ser
XM_017015924.2:c.1580T>G XP_016871413.1:p.Ile527Ser
XM_017015925.2:c.1574T>G XP_016871414.1:p.Ile525Ser
XM_024447887.1:c.1658T>G XP_024303655.1:p.Ile553Ser
XM_024447888.1:c.1655T>G XP_024303656.1:p.Ile552Ser
XM_024447889.1:c.1652T>G XP_024303657.1:p.Ile551Ser
XM_024447890.1:c.1661T>G XP_024303658.1:p.Ile554Ser
XM_024447891.1:c.1583T>G XP_024303659.1:p.Ile528Ser
XM_024447892.1:c.698T>G XP_024303660.1:p.Ile233Ser
NM_000141.5:c.1868T>G MANE Select NP_000132.3:p.Ile623Ser
NM_001144917.2:c.1520T>G NP_001138389.1:p.Ile507Ser
NM_001144918.2:c.1517T>G NP_001138390.1:p.Ile506Ser
NM_001144919.2:c.1604T>G NP_001138391.1:p.Ile535Ser
NM_001320658.2:c.1862T>G NP_001307587.1:p.Ile621Ser
NR_073009.2:n.2304T>G
NM_001144915.2:c.1601T>G NP_001138387.1:p.Ile534Ser
NM_001144916.2:c.1523T>G NP_001138388.1:p.Ile508Ser
NM_001320654.2:c.1184T>G NP_001307583.1:p.Ile395Ser