Canonical Allele Identifier: CA378327074
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2134223457

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121515181T>G , CM000672.2:g.121515181T>G GRCh38
NC_000010.10:g.123274695T>G , CM000672.1:g.123274695T>G GRCh37
NC_000010.9:g.123264685T>G NCBI36
NG_012449.1:g.88278A>C
NG_012449.2:g.88278A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1226A>C MANE Plus Clinical ENSP00000410294.2:p.Asp409Ala
ENST00000351936.11:c.1223A>C ENSP00000309878.10:p.Asp408Ala
ENST00000638709.2:c.53A>C ENSP00000491912.2:p.Asp18Ala
ENST00000682296.1:n.571A>C
ENST00000682550.1:c.878A>C ENSP00000507633.1:p.Asp293Ala
ENST00000682772.1:c.53A>C ENSP00000506848.1:p.Asp18Ala
ENST00000683211.1:c.1223A>C ENSP00000508257.1:p.Asp408Ala
ENST00000683250.1:c.404-11240A>C ENSP00000506847.1:n.404-11240A>C
ENST00000683418.1:n.3570A>C
ENST00000684153.1:c.878A>C ENSP00000506937.1:p.Asp293Ala
ENST00000358487.10:c.1223A>C MANE Select ENSP00000351276.6:p.Asp408Ala
ENST00000336553.10:c.956A>C ENSP00000337665.6:p.Asp319Ala
ENST00000346997.6:c.1223A>C ENSP00000263451.5:p.Asp408Ala
ENST00000351936.10:c.1229A>C ENSP00000309878.9:p.Asp410Ala
ENST00000356226.8:c.878A>C ENSP00000348559.4:p.Asp293Ala
ENST00000357555.9:c.956A>C ENSP00000350166.5:p.Asp319Ala
ENST00000358487.9:c.1223A>C ENSP00000351276.5:p.Asp408Ala
ENST00000360144.7:c.959A>C ENSP00000353262.3:p.Asp320Ala
ENST00000369056.5:c.1226A>C ENSP00000358052.1:p.Asp409Ala
ENST00000369058.7:c.1226A>C ENSP00000358054.3:p.Asp409Ala
ENST00000369059.5:c.881A>C ENSP00000358055.1:p.Asp294Ala
ENST00000369060.8:c.939+4798A>C ENSP00000358056.4:n.939+4798A>C
ENST00000369061.8:c.887A>C ENSP00000358057.4:p.Asp296Ala
ENST00000457416.6:c.1226A>C ENSP00000410294.2:p.Asp409Ala
ENST00000478859.5:c.539A>C ENSP00000474011.1:p.Asp180Ala
ENST00000604236.5:c.*270A>C ENSP00000474109.1:n.*270A>C
ENST00000613048.4:c.956A>C ENSP00000484154.1:p.Asp319Ala
NM_000141.4:c.1223A>C NP_000132.3:p.Asp408Ala
NM_001144913.1:c.1226A>C NP_001138385.1:p.Asp409Ala
NM_001144914.1:c.887A>C NP_001138386.1:p.Asp296Ala
NM_001144915.1:c.956A>C NP_001138387.1:p.Asp319Ala
NM_001144916.1:c.878A>C NP_001138388.1:p.Asp293Ala
NM_001144917.1:c.939+4798A>C NP_001138389.1:n.939+4798A>C
NM_001144918.1:c.878A>C NP_001138390.1:p.Asp293Ala
NM_001144919.1:c.959A>C NP_001138391.1:p.Asp320Ala
NM_022970.3:c.1226A>C NP_075259.4:p.Asp409Ala
NM_023029.2:c.956A>C NP_075418.1:p.Asp319Ala
NR_073009.1:n.1673A>C
XM_006717708.2:c.1283A>C XP_006717771.1:p.Asp428Ala
XM_006717709.2:c.1280A>C XP_006717772.1:p.Asp427Ala
XM_006717710.2:c.1283A>C XP_006717773.1:p.Asp428Ala
XM_006717711.2:c.1016A>C XP_006717774.1:p.Asp339Ala
XM_006717712.2:c.938A>C XP_006717775.1:p.Asp313Ala
XM_006717713.2:c.1280A>C XP_006717776.1:p.Asp427Ala
XM_011539510.1:c.539A>C XP_011537812.1:p.Asp180Ala
NM_001320654.1:c.539A>C NP_001307583.1:p.Asp180Ala
NM_001320658.1:c.1223A>C NP_001307587.1:p.Asp408Ala
XM_006717708.3:c.1283A>C XP_006717771.1:p.Asp428Ala
XM_006717710.4:c.1283A>C XP_006717773.1:p.Asp428Ala
XM_017015920.2:c.1283A>C XP_016871409.1:p.Asp428Ala
XM_017015921.2:c.1280A>C XP_016871410.1:p.Asp427Ala
XM_017015924.2:c.935A>C XP_016871413.1:p.Asp312Ala
XM_017015925.2:c.935A>C XP_016871414.1:p.Asp312Ala
XM_024447887.1:c.1013A>C XP_024303655.1:p.Asp338Ala
XM_024447888.1:c.1016A>C XP_024303656.1:p.Asp339Ala
XM_024447889.1:c.1013A>C XP_024303657.1:p.Asp338Ala
XM_024447890.1:c.1016A>C XP_024303658.1:p.Asp339Ala
XM_024447891.1:c.938A>C XP_024303659.1:p.Asp313Ala
XM_024447892.1:c.53A>C XP_024303660.1:p.Asp18Ala
NM_000141.5:c.1223A>C MANE Select NP_000132.3:p.Asp408Ala
NM_001144917.2:c.939+4798A>C NP_001138389.1:n.939+4798A>C
NM_001144918.2:c.878A>C NP_001138390.1:p.Asp293Ala
NM_001144919.2:c.959A>C NP_001138391.1:p.Asp320Ala
NM_001320658.2:c.1223A>C NP_001307587.1:p.Asp408Ala
NR_073009.2:n.1659A>C
NM_001144915.2:c.956A>C NP_001138387.1:p.Asp319Ala
NM_001144916.2:c.878A>C NP_001138388.1:p.Asp293Ala
NM_001320654.2:c.539A>C NP_001307583.1:p.Asp180Ala