Canonical Allele Identifier: CA10631081
Community Standard Title: NM_000141.5(FGFR2):c.1539C>A (p.Thr513=)
Gene: FGFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121500848G>T , CM000672.2:g.121500848G>T GRCh38
NC_000010.10:g.123260362G>T , CM000672.1:g.123260362G>T GRCh37
NC_000010.9:g.123250352G>T NCBI36
NG_012449.1:g.102611C>A
NG_012449.2:g.102611C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000141.5:c.1539C>A MANE Select NP_000132.3:p.Thr513=
ENST00000358487.10:c.1539C>A MANE Select ENSP00000351276.6:p.Thr513=
ENST00000457416.7:c.1542C>A MANE Plus Clinical ENSP00000410294.2:p.Thr514=
NM_000141.4:c.1539C>A NP_000132.3:p.Thr513=
NM_001144913.1:c.1542C>A NP_001138385.1:p.Thr514=
NM_001144914.1:c.1203C>A NP_001138386.1:p.Thr401=
NM_001144915.1:c.1272C>A NP_001138387.1:p.Thr424=
NM_001144915.2:c.1272C>A NP_001138387.1:p.Thr424=
NM_001144916.1:c.1194C>A NP_001138388.1:p.Thr398=
NM_001144916.2:c.1194C>A NP_001138388.1:p.Thr398=
NM_001144917.1:c.1191C>A NP_001138389.1:p.Thr397=
NM_001144917.2:c.1191C>A NP_001138389.1:p.Thr397=
NM_001144918.1:c.1188C>A NP_001138390.1:p.Thr396=
NM_001144918.2:c.1188C>A NP_001138390.1:p.Thr396=
NM_001144919.1:c.1275C>A NP_001138391.1:p.Thr425=
NM_001144919.2:c.1275C>A NP_001138391.1:p.Thr425=
NM_001320654.1:c.855C>A NP_001307583.1:p.Thr285=
NM_001320654.2:c.855C>A NP_001307583.1:p.Thr285=
NM_001320658.1:c.1533C>A NP_001307587.1:p.Thr511=
NM_001320658.2:c.1533C>A NP_001307587.1:p.Thr511=
NM_022970.3:c.1542C>A NP_075259.4:p.Thr514=
NM_023029.2:c.1272C>A NP_075418.1:p.Thr424=
NR_073009.1:n.1989C>A
NR_073009.2:n.1975C>A
ENST00000336553.10:c.1266C>A ENSP00000337665.6:p.Thr422=
ENST00000346997.6:c.1533C>A ENSP00000263451.5:p.Thr511=
ENST00000351936.10:c.1539C>A ENSP00000309878.9:p.Thr513=
ENST00000351936.11:c.1533C>A ENSP00000309878.10:p.Thr511=
ENST00000356226.8:c.1188C>A ENSP00000348559.4:p.Thr396=
ENST00000357555.9:c.1272C>A ENSP00000350166.5:p.Thr424=
ENST00000358487.9:c.1539C>A ENSP00000351276.5:p.Thr513=
ENST00000360144.7:c.1275C>A ENSP00000353262.3:p.Thr425=
ENST00000369056.5:c.1542C>A ENSP00000358052.1:p.Thr514=
ENST00000369058.7:c.1542C>A ENSP00000358054.3:p.Thr514=
ENST00000369059.5:c.1197C>A ENSP00000358055.1:p.Thr399=
ENST00000369060.8:c.1191C>A ENSP00000358056.4:p.Thr397=
ENST00000369061.8:c.1203C>A ENSP00000358057.4:p.Thr401=
ENST00000429361.5:c.315C>A ENSP00000404219.1:p.Thr105=
ENST00000457416.6:c.1542C>A ENSP00000410294.2:p.Thr514=
ENST00000478859.5:c.855C>A ENSP00000474011.1:p.Thr285=
ENST00000604236.5:c.*586C>A ENSP00000474109.1:n.*586C>A
ENST00000613048.4:c.1272C>A ENSP00000484154.1:p.Thr424=
ENST00000638709.2:c.363C>A ENSP00000491912.2:p.Thr121=
ENST00000682296.1:n.881C>A
ENST00000682550.1:c.1188C>A ENSP00000507633.1:p.Thr396=
ENST00000682772.1:c.363C>A ENSP00000506848.1:p.Thr121=
ENST00000682904.1:n.359C>A
ENST00000683211.1:c.1533C>A ENSP00000508257.1:p.Thr511=
ENST00000683250.1:c.*241C>A ENSP00000506847.1:n.*241C>A
ENST00000683418.1:n.3880C>A
ENST00000684153.1:c.1188C>A ENSP00000506937.1:p.Thr396=
ENST00000684516.1:n.2552C>A
XM_006717708.2:c.1593C>A XP_006717771.1:p.Thr531=
XM_006717708.3:c.1593C>A XP_006717771.1:p.Thr531=
XM_006717709.2:c.1590C>A XP_006717772.1:p.Thr530=
XM_006717710.2:c.1599C>A XP_006717773.1:p.Thr533=
XM_006717710.4:c.1599C>A XP_006717773.1:p.Thr533=
XM_006717711.2:c.1332C>A XP_006717774.1:p.Thr444=
XM_006717712.2:c.1254C>A XP_006717775.1:p.Thr418=
XM_006717713.2:c.1596C>A XP_006717776.1:p.Thr532=
XM_011539510.1:c.855C>A XP_011537812.1:p.Thr285=
XM_017015920.2:c.1593C>A XP_016871409.1:p.Thr531=
XM_017015921.2:c.1590C>A XP_016871410.1:p.Thr530=
XM_017015924.2:c.1251C>A XP_016871413.1:p.Thr417=
XM_017015925.2:c.1245C>A XP_016871414.1:p.Thr415=
XM_024447887.1:c.1329C>A XP_024303655.1:p.Thr443=
XM_024447888.1:c.1326C>A XP_024303656.1:p.Thr442=
XM_024447889.1:c.1323C>A XP_024303657.1:p.Thr441=
XM_024447890.1:c.1332C>A XP_024303658.1:p.Thr444=
XM_024447891.1:c.1254C>A XP_024303659.1:p.Thr418=
XM_024447892.1:c.369C>A XP_024303660.1:p.Thr123=