Canonical Allele Identifier: CA122998
Community Standard Title: NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr)
Gene: FGFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488035C>T , CM000672.2:g.121488035C>T GRCh38
NC_000010.10:g.123247549C>T , CM000672.1:g.123247549C>T GRCh37
NC_000010.9:g.123237539C>T NCBI36
NG_012449.1:g.115424G>A
NG_012449.2:g.115424G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000141.5:c.1942G>A MANE Select NP_000132.3:p.Ala648Thr
ENST00000358487.10:c.1942G>A MANE Select ENSP00000351276.6:p.Ala648Thr
ENST00000457416.7:c.1945G>A MANE Plus Clinical ENSP00000410294.2:p.Ala649Thr
NM_000141.4:c.1942G>A NP_000132.3:p.Ala648Thr
NM_001144913.1:c.1945G>A NP_001138385.1:p.Ala649Thr
NM_001144914.1:c.1606G>A NP_001138386.1:p.Ala536Thr
NM_001144915.1:c.1675G>A NP_001138387.1:p.Ala559Thr
NM_001144915.2:c.1675G>A NP_001138387.1:p.Ala559Thr
NM_001144916.1:c.1597G>A NP_001138388.1:p.Ala533Thr
NM_001144916.2:c.1597G>A NP_001138388.1:p.Ala533Thr
NM_001144917.1:c.1594G>A NP_001138389.1:p.Ala532Thr
NM_001144917.2:c.1594G>A NP_001138389.1:p.Ala532Thr
NM_001144918.1:c.1591G>A NP_001138390.1:p.Ala531Thr
NM_001144918.2:c.1591G>A NP_001138390.1:p.Ala531Thr
NM_001144919.1:c.1678G>A NP_001138391.1:p.Ala560Thr
NM_001144919.2:c.1678G>A NP_001138391.1:p.Ala560Thr
NM_001320654.1:c.1258G>A NP_001307583.1:p.Ala420Thr
NM_001320654.2:c.1258G>A NP_001307583.1:p.Ala420Thr
NM_001320658.1:c.1936G>A NP_001307587.1:p.Ala646Thr
NM_001320658.2:c.1936G>A NP_001307587.1:p.Ala646Thr
NM_022970.3:c.1945G>A NP_075259.4:p.Ala649Thr
NM_023029.2:c.1675G>A NP_075418.1:p.Ala559Thr
NR_073009.1:n.2392G>A
NR_073009.2:n.2378G>A
ENST00000336553.10:c.1669G>A ENSP00000337665.6:p.Ala557Thr
ENST00000346997.6:c.1936G>A ENSP00000263451.5:p.Ala646Thr
ENST00000351936.10:c.1942G>A ENSP00000309878.9:p.Ala648Thr
ENST00000351936.11:c.1936G>A ENSP00000309878.10:p.Ala646Thr
ENST00000356226.8:c.1591G>A ENSP00000348559.4:p.Ala531Thr
ENST00000357555.9:c.1675G>A ENSP00000350166.5:p.Ala559Thr
ENST00000358487.9:c.1942G>A ENSP00000351276.5:p.Ala648Thr
ENST00000360144.7:c.1678G>A ENSP00000353262.3:p.Ala560Thr
ENST00000369056.5:c.1945G>A ENSP00000358052.1:p.Ala649Thr
ENST00000369058.7:c.1945G>A ENSP00000358054.3:p.Ala649Thr
ENST00000369059.5:c.1600G>A ENSP00000358055.1:p.Ala534Thr
ENST00000369060.8:c.1594G>A ENSP00000358056.4:p.Ala532Thr
ENST00000369061.8:c.1606G>A ENSP00000358057.4:p.Ala536Thr
ENST00000429361.5:c.718G>A ENSP00000404219.1:p.Ala240Thr
ENST00000457416.6:c.1945G>A ENSP00000410294.2:p.Ala649Thr
ENST00000478859.5:c.1258G>A ENSP00000474011.1:p.Ala420Thr
ENST00000604236.5:c.*989G>A ENSP00000474109.1:n.*989G>A
ENST00000613048.4:c.1675G>A ENSP00000484154.1:p.Ala559Thr
ENST00000638709.2:c.766G>A ENSP00000491912.2:p.Ala256Thr
ENST00000682296.1:n.1284G>A
ENST00000682550.1:c.1591G>A ENSP00000507633.1:p.Ala531Thr
ENST00000682772.1:c.766G>A ENSP00000506848.1:p.Ala256Thr
ENST00000682904.1:n.762G>A
ENST00000683029.1:n.354G>A
ENST00000683211.1:c.1936G>A ENSP00000508257.1:p.Ala646Thr
ENST00000683250.1:c.*644G>A ENSP00000506847.1:n.*644G>A
ENST00000683418.1:n.4283G>A
ENST00000684153.1:c.1591G>A ENSP00000506937.1:p.Ala531Thr
ENST00000684516.1:n.2955G>A
XM_006717708.2:c.1996G>A XP_006717771.1:p.Ala666Thr
XM_006717708.3:c.1996G>A XP_006717771.1:p.Ala666Thr
XM_006717709.2:c.1993G>A XP_006717772.1:p.Ala665Thr
XM_006717710.2:c.2002G>A XP_006717773.1:p.Ala668Thr
XM_006717710.4:c.2002G>A XP_006717773.1:p.Ala668Thr
XM_006717711.2:c.1735G>A XP_006717774.1:p.Ala579Thr
XM_006717712.2:c.1657G>A XP_006717775.1:p.Ala553Thr
XM_006717713.2:c.1999G>A XP_006717776.1:p.Ala667Thr
XM_011539510.1:c.1258G>A XP_011537812.1:p.Ala420Thr
XM_017015920.2:c.1996G>A XP_016871409.1:p.Ala666Thr
XM_017015921.2:c.1993G>A XP_016871410.1:p.Ala665Thr
XM_017015924.2:c.1654G>A XP_016871413.1:p.Ala552Thr
XM_017015925.2:c.1648G>A XP_016871414.1:p.Ala550Thr
XM_024447887.1:c.1732G>A XP_024303655.1:p.Ala578Thr
XM_024447888.1:c.1729G>A XP_024303656.1:p.Ala577Thr
XM_024447889.1:c.1726G>A XP_024303657.1:p.Ala576Thr
XM_024447890.1:c.1735G>A XP_024303658.1:p.Ala579Thr
XM_024447891.1:c.1657G>A XP_024303659.1:p.Ala553Thr
XM_024447892.1:c.772G>A XP_024303660.1:p.Ala258Thr