Canonical Allele Identifier: CA378321380
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498512C>A , CM000672.2:g.121498512C>A GRCh38
NC_000010.10:g.123258026C>A , CM000672.1:g.123258026C>A GRCh37
NC_000010.9:g.123248016C>A NCBI36
NG_012449.1:g.104947G>T
NG_012449.2:g.104947G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1658G>T MANE Plus Clinical ENSP00000410294.2:p.Gly553Val
ENST00000351936.11:c.1649G>T ENSP00000309878.10:p.Gly550Val
ENST00000638709.2:c.479G>T ENSP00000491912.2:p.Gly160Val
ENST00000682296.1:n.997G>T
ENST00000682550.1:c.1304G>T ENSP00000507633.1:p.Gly435Val
ENST00000682772.1:c.479G>T ENSP00000506848.1:p.Gly160Val
ENST00000682904.1:n.475G>T
ENST00000683211.1:c.1649G>T ENSP00000508257.1:p.Gly550Val
ENST00000683250.1:c.*357G>T ENSP00000506847.1:n.*357G>T
ENST00000683418.1:n.3996G>T
ENST00000684153.1:c.1304G>T ENSP00000506937.1:p.Gly435Val
ENST00000684516.1:n.2668G>T
ENST00000358487.10:c.1655G>T MANE Select ENSP00000351276.6:p.Gly552Val
ENST00000336553.10:c.1382G>T ENSP00000337665.6:p.Gly461Val
ENST00000346997.6:c.1649G>T ENSP00000263451.5:p.Gly550Val
ENST00000351936.10:c.1655G>T ENSP00000309878.9:p.Gly552Val
ENST00000356226.8:c.1304G>T ENSP00000348559.4:p.Gly435Val
ENST00000357555.9:c.1388G>T ENSP00000350166.5:p.Gly463Val
ENST00000358487.9:c.1655G>T ENSP00000351276.5:p.Gly552Val
ENST00000360144.7:c.1391G>T ENSP00000353262.3:p.Gly464Val
ENST00000369056.5:c.1658G>T ENSP00000358052.1:p.Gly553Val
ENST00000369058.7:c.1658G>T ENSP00000358054.3:p.Gly553Val
ENST00000369059.5:c.1313G>T ENSP00000358055.1:p.Gly438Val
ENST00000369060.8:c.1307G>T ENSP00000358056.4:p.Gly436Val
ENST00000369061.8:c.1319G>T ENSP00000358057.4:p.Gly440Val
ENST00000429361.5:c.431G>T ENSP00000404219.1:p.Gly144Val
ENST00000457416.6:c.1658G>T ENSP00000410294.2:p.Gly553Val
ENST00000478859.5:c.971G>T ENSP00000474011.1:p.Gly324Val
ENST00000604236.5:c.*702G>T ENSP00000474109.1:n.*702G>T
ENST00000613048.4:c.1388G>T ENSP00000484154.1:p.Gly463Val
NM_000141.4:c.1655G>T NP_000132.3:p.Gly552Val
NM_001144913.1:c.1658G>T NP_001138385.1:p.Gly553Val
NM_001144914.1:c.1319G>T NP_001138386.1:p.Gly440Val
NM_001144915.1:c.1388G>T NP_001138387.1:p.Gly463Val
NM_001144916.1:c.1310G>T NP_001138388.1:p.Gly437Val
NM_001144917.1:c.1307G>T NP_001138389.1:p.Gly436Val
NM_001144918.1:c.1304G>T NP_001138390.1:p.Gly435Val
NM_001144919.1:c.1391G>T NP_001138391.1:p.Gly464Val
NM_022970.3:c.1658G>T NP_075259.4:p.Gly553Val
NM_023029.2:c.1388G>T NP_075418.1:p.Gly463Val
NR_073009.1:n.2105G>T
XM_006717708.2:c.1709G>T XP_006717771.1:p.Gly570Val
XM_006717709.2:c.1706G>T XP_006717772.1:p.Gly569Val
XM_006717710.2:c.1715G>T XP_006717773.1:p.Gly572Val
XM_006717711.2:c.1448G>T XP_006717774.1:p.Gly483Val
XM_006717712.2:c.1370G>T XP_006717775.1:p.Gly457Val
XM_006717713.2:c.1712G>T XP_006717776.1:p.Gly571Val
XM_011539510.1:c.971G>T XP_011537812.1:p.Gly324Val
NM_001320654.1:c.971G>T NP_001307583.1:p.Gly324Val
NM_001320658.1:c.1649G>T NP_001307587.1:p.Gly550Val
XM_006717708.3:c.1709G>T XP_006717771.1:p.Gly570Val
XM_006717710.4:c.1715G>T XP_006717773.1:p.Gly572Val
XM_017015920.2:c.1709G>T XP_016871409.1:p.Gly570Val
XM_017015921.2:c.1706G>T XP_016871410.1:p.Gly569Val
XM_017015924.2:c.1367G>T XP_016871413.1:p.Gly456Val
XM_017015925.2:c.1361G>T XP_016871414.1:p.Gly454Val
XM_024447887.1:c.1445G>T XP_024303655.1:p.Gly482Val
XM_024447888.1:c.1442G>T XP_024303656.1:p.Gly481Val
XM_024447889.1:c.1439G>T XP_024303657.1:p.Gly480Val
XM_024447890.1:c.1448G>T XP_024303658.1:p.Gly483Val
XM_024447891.1:c.1370G>T XP_024303659.1:p.Gly457Val
XM_024447892.1:c.485G>T XP_024303660.1:p.Gly162Val
NM_000141.5:c.1655G>T MANE Select NP_000132.3:p.Gly552Val
NM_001144917.2:c.1307G>T NP_001138389.1:p.Gly436Val
NM_001144918.2:c.1304G>T NP_001138390.1:p.Gly435Val
NM_001144919.2:c.1391G>T NP_001138391.1:p.Gly464Val
NM_001320658.2:c.1649G>T NP_001307587.1:p.Gly550Val
NR_073009.2:n.2091G>T
NM_001144915.2:c.1388G>T NP_001138387.1:p.Gly463Val
NM_001144916.2:c.1310G>T NP_001138388.1:p.Gly437Val
NM_001320654.2:c.971G>T NP_001307583.1:p.Gly324Val