Canonical Allele Identifier: CA378327445
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121515304T>G , CM000672.2:g.121515304T>G GRCh38
NC_000010.10:g.123274818T>G , CM000672.1:g.123274818T>G GRCh37
NC_000010.9:g.123264808T>G NCBI36
NG_012449.1:g.88155A>C
NG_012449.2:g.88155A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1103A>C MANE Plus Clinical ENSP00000410294.2:p.Lys368Thr
ENST00000351936.11:c.1100A>C ENSP00000309878.10:p.Lys367Thr
ENST00000638709.2:c.-71A>C ENSP00000491912.2:n.-71A>C
ENST00000682296.1:n.448A>C
ENST00000682550.1:c.755A>C ENSP00000507633.1:p.Lys252Thr
ENST00000682772.1:c.-71A>C ENSP00000506848.1:n.-71A>C
ENST00000683211.1:c.1100A>C ENSP00000508257.1:p.Lys367Thr
ENST00000683250.1:c.404-11363A>C ENSP00000506847.1:n.404-11363A>C
ENST00000683418.1:n.3447A>C
ENST00000684153.1:c.755A>C ENSP00000506937.1:p.Lys252Thr
ENST00000358487.10:c.1100A>C MANE Select ENSP00000351276.6:p.Lys367Thr
ENST00000336553.10:c.833A>C ENSP00000337665.6:p.Lys278Thr
ENST00000346997.6:c.1100A>C ENSP00000263451.5:p.Lys367Thr
ENST00000351936.10:c.1106A>C ENSP00000309878.9:p.Lys369Thr
ENST00000356226.8:c.755A>C ENSP00000348559.4:p.Lys252Thr
ENST00000357555.9:c.833A>C ENSP00000350166.5:p.Lys278Thr
ENST00000358487.9:c.1100A>C ENSP00000351276.5:p.Lys367Thr
ENST00000360144.7:c.836A>C ENSP00000353262.3:p.Lys279Thr
ENST00000369056.5:c.1103A>C ENSP00000358052.1:p.Lys368Thr
ENST00000369058.7:c.1103A>C ENSP00000358054.3:p.Lys368Thr
ENST00000369059.5:c.758A>C ENSP00000358055.1:p.Lys253Thr
ENST00000369060.8:c.939+4675A>C ENSP00000358056.4:n.939+4675A>C
ENST00000369061.8:c.764A>C ENSP00000358057.4:p.Lys255Thr
ENST00000457416.6:c.1103A>C ENSP00000410294.2:p.Lys368Thr
ENST00000463870.5:n.309A>C
ENST00000478859.5:c.416A>C ENSP00000474011.1:p.Lys139Thr
ENST00000604236.5:c.*147A>C ENSP00000474109.1:n.*147A>C
ENST00000613048.4:c.833A>C ENSP00000484154.1:p.Lys278Thr
NM_000141.4:c.1100A>C NP_000132.3:p.Lys367Thr
NM_001144913.1:c.1103A>C NP_001138385.1:p.Lys368Thr
NM_001144914.1:c.764A>C NP_001138386.1:p.Lys255Thr
NM_001144915.1:c.833A>C NP_001138387.1:p.Lys278Thr
NM_001144916.1:c.755A>C NP_001138388.1:p.Lys252Thr
NM_001144917.1:c.939+4675A>C NP_001138389.1:n.939+4675A>C
NM_001144918.1:c.755A>C NP_001138390.1:p.Lys252Thr
NM_001144919.1:c.836A>C NP_001138391.1:p.Lys279Thr
NM_022970.3:c.1103A>C NP_075259.4:p.Lys368Thr
NM_023029.2:c.833A>C NP_075418.1:p.Lys278Thr
NR_073009.1:n.1550A>C
XM_006717708.2:c.1160A>C XP_006717771.1:p.Lys387Thr
XM_006717709.2:c.1157A>C XP_006717772.1:p.Lys386Thr
XM_006717710.2:c.1160A>C XP_006717773.1:p.Lys387Thr
XM_006717711.2:c.893A>C XP_006717774.1:p.Lys298Thr
XM_006717712.2:c.815A>C XP_006717775.1:p.Lys272Thr
XM_006717713.2:c.1157A>C XP_006717776.1:p.Lys386Thr
XM_011539510.1:c.416A>C XP_011537812.1:p.Lys139Thr
NM_001320654.1:c.416A>C NP_001307583.1:p.Lys139Thr
NM_001320658.1:c.1100A>C NP_001307587.1:p.Lys367Thr
XM_006717708.3:c.1160A>C XP_006717771.1:p.Lys387Thr
XM_006717710.4:c.1160A>C XP_006717773.1:p.Lys387Thr
XM_017015920.2:c.1160A>C XP_016871409.1:p.Lys387Thr
XM_017015921.2:c.1157A>C XP_016871410.1:p.Lys386Thr
XM_017015924.2:c.812A>C XP_016871413.1:p.Lys271Thr
XM_017015925.2:c.812A>C XP_016871414.1:p.Lys271Thr
XM_024447887.1:c.890A>C XP_024303655.1:p.Lys297Thr
XM_024447888.1:c.893A>C XP_024303656.1:p.Lys298Thr
XM_024447889.1:c.890A>C XP_024303657.1:p.Lys297Thr
XM_024447890.1:c.893A>C XP_024303658.1:p.Lys298Thr
XM_024447891.1:c.815A>C XP_024303659.1:p.Lys272Thr
XM_024447892.1:c.-71A>C XP_024303660.1:n.-71A>C
NM_000141.5:c.1100A>C MANE Select NP_000132.3:p.Lys367Thr
NM_001144917.2:c.939+4675A>C NP_001138389.1:n.939+4675A>C
NM_001144918.2:c.755A>C NP_001138390.1:p.Lys252Thr
NM_001144919.2:c.836A>C NP_001138391.1:p.Lys279Thr
NM_001320658.2:c.1100A>C NP_001307587.1:p.Lys367Thr
NR_073009.2:n.1536A>C
NM_001144915.2:c.833A>C NP_001138387.1:p.Lys278Thr
NM_001144916.2:c.755A>C NP_001138388.1:p.Lys252Thr
NM_001320654.2:c.416A>C NP_001307583.1:p.Lys139Thr