Canonical Allele Identifier: CA378315019
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488096T>G , CM000672.2:g.121488096T>G GRCh38
NC_000010.10:g.123247610T>G , CM000672.1:g.123247610T>G GRCh37
NC_000010.9:g.123237600T>G NCBI36
NG_012449.1:g.115363A>C
NG_012449.2:g.115363A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1884A>C MANE Plus Clinical ENSP00000410294.2:p.Leu628Phe
ENST00000351936.11:c.1875A>C ENSP00000309878.10:p.Leu625Phe
ENST00000638709.2:c.705A>C ENSP00000491912.2:p.Leu235Phe
ENST00000682296.1:n.1223A>C
ENST00000682550.1:c.1530A>C ENSP00000507633.1:p.Leu510Phe
ENST00000682772.1:c.705A>C ENSP00000506848.1:p.Leu235Phe
ENST00000682904.1:n.701A>C
ENST00000683029.1:n.293A>C
ENST00000683211.1:c.1875A>C ENSP00000508257.1:p.Leu625Phe
ENST00000683250.1:c.*583A>C ENSP00000506847.1:n.*583A>C
ENST00000683418.1:n.4222A>C
ENST00000684153.1:c.1530A>C ENSP00000506937.1:p.Leu510Phe
ENST00000684516.1:n.2894A>C
ENST00000358487.10:c.1881A>C MANE Select ENSP00000351276.6:p.Leu627Phe
ENST00000336553.10:c.1608A>C ENSP00000337665.6:p.Leu536Phe
ENST00000346997.6:c.1875A>C ENSP00000263451.5:p.Leu625Phe
ENST00000351936.10:c.1881A>C ENSP00000309878.9:p.Leu627Phe
ENST00000356226.8:c.1530A>C ENSP00000348559.4:p.Leu510Phe
ENST00000357555.9:c.1614A>C ENSP00000350166.5:p.Leu538Phe
ENST00000358487.9:c.1881A>C ENSP00000351276.5:p.Leu627Phe
ENST00000360144.7:c.1617A>C ENSP00000353262.3:p.Leu539Phe
ENST00000369056.5:c.1884A>C ENSP00000358052.1:p.Leu628Phe
ENST00000369058.7:c.1884A>C ENSP00000358054.3:p.Leu628Phe
ENST00000369059.5:c.1539A>C ENSP00000358055.1:p.Leu513Phe
ENST00000369060.8:c.1533A>C ENSP00000358056.4:p.Leu511Phe
ENST00000369061.8:c.1545A>C ENSP00000358057.4:p.Leu515Phe
ENST00000429361.5:c.657A>C ENSP00000404219.1:p.Leu219Phe
ENST00000457416.6:c.1884A>C ENSP00000410294.2:p.Leu628Phe
ENST00000478859.5:c.1197A>C ENSP00000474011.1:p.Leu399Phe
ENST00000604236.5:c.*928A>C ENSP00000474109.1:n.*928A>C
ENST00000613048.4:c.1614A>C ENSP00000484154.1:p.Leu538Phe
NM_000141.4:c.1881A>C NP_000132.3:p.Leu627Phe
NM_001144913.1:c.1884A>C NP_001138385.1:p.Leu628Phe
NM_001144914.1:c.1545A>C NP_001138386.1:p.Leu515Phe
NM_001144915.1:c.1614A>C NP_001138387.1:p.Leu538Phe
NM_001144916.1:c.1536A>C NP_001138388.1:p.Leu512Phe
NM_001144917.1:c.1533A>C NP_001138389.1:p.Leu511Phe
NM_001144918.1:c.1530A>C NP_001138390.1:p.Leu510Phe
NM_001144919.1:c.1617A>C NP_001138391.1:p.Leu539Phe
NM_022970.3:c.1884A>C NP_075259.4:p.Leu628Phe
NM_023029.2:c.1614A>C NP_075418.1:p.Leu538Phe
NR_073009.1:n.2331A>C
XM_006717708.2:c.1935A>C XP_006717771.1:p.Leu645Phe
XM_006717709.2:c.1932A>C XP_006717772.1:p.Leu644Phe
XM_006717710.2:c.1941A>C XP_006717773.1:p.Leu647Phe
XM_006717711.2:c.1674A>C XP_006717774.1:p.Leu558Phe
XM_006717712.2:c.1596A>C XP_006717775.1:p.Leu532Phe
XM_006717713.2:c.1938A>C XP_006717776.1:p.Leu646Phe
XM_011539510.1:c.1197A>C XP_011537812.1:p.Leu399Phe
NM_001320654.1:c.1197A>C NP_001307583.1:p.Leu399Phe
NM_001320658.1:c.1875A>C NP_001307587.1:p.Leu625Phe
XM_006717708.3:c.1935A>C XP_006717771.1:p.Leu645Phe
XM_006717710.4:c.1941A>C XP_006717773.1:p.Leu647Phe
XM_017015920.2:c.1935A>C XP_016871409.1:p.Leu645Phe
XM_017015921.2:c.1932A>C XP_016871410.1:p.Leu644Phe
XM_017015924.2:c.1593A>C XP_016871413.1:p.Leu531Phe
XM_017015925.2:c.1587A>C XP_016871414.1:p.Leu529Phe
XM_024447887.1:c.1671A>C XP_024303655.1:p.Leu557Phe
XM_024447888.1:c.1668A>C XP_024303656.1:p.Leu556Phe
XM_024447889.1:c.1665A>C XP_024303657.1:p.Leu555Phe
XM_024447890.1:c.1674A>C XP_024303658.1:p.Leu558Phe
XM_024447891.1:c.1596A>C XP_024303659.1:p.Leu532Phe
XM_024447892.1:c.711A>C XP_024303660.1:p.Leu237Phe
NM_000141.5:c.1881A>C MANE Select NP_000132.3:p.Leu627Phe
NM_001144917.2:c.1533A>C NP_001138389.1:p.Leu511Phe
NM_001144918.2:c.1530A>C NP_001138390.1:p.Leu510Phe
NM_001144919.2:c.1617A>C NP_001138391.1:p.Leu539Phe
NM_001320658.2:c.1875A>C NP_001307587.1:p.Leu625Phe
NR_073009.2:n.2317A>C
NM_001144915.2:c.1614A>C NP_001138387.1:p.Leu538Phe
NM_001144916.2:c.1536A>C NP_001138388.1:p.Leu512Phe
NM_001320654.2:c.1197A>C NP_001307583.1:p.Leu399Phe