Canonical Allele Identifier: CA378314932
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488087T>G , CM000672.2:g.121488087T>G GRCh38
NC_000010.10:g.123247601T>G , CM000672.1:g.123247601T>G GRCh37
NC_000010.9:g.123237591T>G NCBI36
NG_012449.1:g.115372A>C
NG_012449.2:g.115372A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1893A>C MANE Plus Clinical ENSP00000410294.2:p.Arg631Ser
ENST00000351936.11:c.1884A>C ENSP00000309878.10:p.Arg628Ser
ENST00000638709.2:c.714A>C ENSP00000491912.2:p.Arg238Ser
ENST00000682296.1:n.1232A>C
ENST00000682550.1:c.1539A>C ENSP00000507633.1:p.Arg513Ser
ENST00000682772.1:c.714A>C ENSP00000506848.1:p.Arg238Ser
ENST00000682904.1:n.710A>C
ENST00000683029.1:n.302A>C
ENST00000683211.1:c.1884A>C ENSP00000508257.1:p.Arg628Ser
ENST00000683250.1:c.*592A>C ENSP00000506847.1:n.*592A>C
ENST00000683418.1:n.4231A>C
ENST00000684153.1:c.1539A>C ENSP00000506937.1:p.Arg513Ser
ENST00000684516.1:n.2903A>C
ENST00000358487.10:c.1890A>C MANE Select ENSP00000351276.6:p.Arg630Ser
ENST00000336553.10:c.1617A>C ENSP00000337665.6:p.Arg539Ser
ENST00000346997.6:c.1884A>C ENSP00000263451.5:p.Arg628Ser
ENST00000351936.10:c.1890A>C ENSP00000309878.9:p.Arg630Ser
ENST00000356226.8:c.1539A>C ENSP00000348559.4:p.Arg513Ser
ENST00000357555.9:c.1623A>C ENSP00000350166.5:p.Arg541Ser
ENST00000358487.9:c.1890A>C ENSP00000351276.5:p.Arg630Ser
ENST00000360144.7:c.1626A>C ENSP00000353262.3:p.Arg542Ser
ENST00000369056.5:c.1893A>C ENSP00000358052.1:p.Arg631Ser
ENST00000369058.7:c.1893A>C ENSP00000358054.3:p.Arg631Ser
ENST00000369059.5:c.1548A>C ENSP00000358055.1:p.Arg516Ser
ENST00000369060.8:c.1542A>C ENSP00000358056.4:p.Arg514Ser
ENST00000369061.8:c.1554A>C ENSP00000358057.4:p.Arg518Ser
ENST00000429361.5:c.666A>C ENSP00000404219.1:p.Arg222Ser
ENST00000457416.6:c.1893A>C ENSP00000410294.2:p.Arg631Ser
ENST00000478859.5:c.1206A>C ENSP00000474011.1:p.Arg402Ser
ENST00000604236.5:c.*937A>C ENSP00000474109.1:n.*937A>C
ENST00000613048.4:c.1623A>C ENSP00000484154.1:p.Arg541Ser
NM_000141.4:c.1890A>C NP_000132.3:p.Arg630Ser
NM_001144913.1:c.1893A>C NP_001138385.1:p.Arg631Ser
NM_001144914.1:c.1554A>C NP_001138386.1:p.Arg518Ser
NM_001144915.1:c.1623A>C NP_001138387.1:p.Arg541Ser
NM_001144916.1:c.1545A>C NP_001138388.1:p.Arg515Ser
NM_001144917.1:c.1542A>C NP_001138389.1:p.Arg514Ser
NM_001144918.1:c.1539A>C NP_001138390.1:p.Arg513Ser
NM_001144919.1:c.1626A>C NP_001138391.1:p.Arg542Ser
NM_022970.3:c.1893A>C NP_075259.4:p.Arg631Ser
NM_023029.2:c.1623A>C NP_075418.1:p.Arg541Ser
NR_073009.1:n.2340A>C
XM_006717708.2:c.1944A>C XP_006717771.1:p.Arg648Ser
XM_006717709.2:c.1941A>C XP_006717772.1:p.Arg647Ser
XM_006717710.2:c.1950A>C XP_006717773.1:p.Arg650Ser
XM_006717711.2:c.1683A>C XP_006717774.1:p.Arg561Ser
XM_006717712.2:c.1605A>C XP_006717775.1:p.Arg535Ser
XM_006717713.2:c.1947A>C XP_006717776.1:p.Arg649Ser
XM_011539510.1:c.1206A>C XP_011537812.1:p.Arg402Ser
NM_001320654.1:c.1206A>C NP_001307583.1:p.Arg402Ser
NM_001320658.1:c.1884A>C NP_001307587.1:p.Arg628Ser
XM_006717708.3:c.1944A>C XP_006717771.1:p.Arg648Ser
XM_006717710.4:c.1950A>C XP_006717773.1:p.Arg650Ser
XM_017015920.2:c.1944A>C XP_016871409.1:p.Arg648Ser
XM_017015921.2:c.1941A>C XP_016871410.1:p.Arg647Ser
XM_017015924.2:c.1602A>C XP_016871413.1:p.Arg534Ser
XM_017015925.2:c.1596A>C XP_016871414.1:p.Arg532Ser
XM_024447887.1:c.1680A>C XP_024303655.1:p.Arg560Ser
XM_024447888.1:c.1677A>C XP_024303656.1:p.Arg559Ser
XM_024447889.1:c.1674A>C XP_024303657.1:p.Arg558Ser
XM_024447890.1:c.1683A>C XP_024303658.1:p.Arg561Ser
XM_024447891.1:c.1605A>C XP_024303659.1:p.Arg535Ser
XM_024447892.1:c.720A>C XP_024303660.1:p.Arg240Ser
NM_000141.5:c.1890A>C MANE Select NP_000132.3:p.Arg630Ser
NM_001144917.2:c.1542A>C NP_001138389.1:p.Arg514Ser
NM_001144918.2:c.1539A>C NP_001138390.1:p.Arg513Ser
NM_001144919.2:c.1626A>C NP_001138391.1:p.Arg542Ser
NM_001320658.2:c.1884A>C NP_001307587.1:p.Arg628Ser
NR_073009.2:n.2326A>C
NM_001144915.2:c.1623A>C NP_001138387.1:p.Arg541Ser
NM_001144916.2:c.1545A>C NP_001138388.1:p.Arg515Ser
NM_001320654.2:c.1206A>C NP_001307583.1:p.Arg402Ser