Canonical Allele Identifier: CA378321710
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498584A>T , CM000672.2:g.121498584A>T GRCh38
NC_000010.10:g.123258098A>T , CM000672.1:g.123258098A>T GRCh37
NC_000010.9:g.123248088A>T NCBI36
NG_012449.1:g.104875T>A
NG_012449.2:g.104875T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1586T>A MANE Plus Clinical ENSP00000410294.2:p.Leu529His
ENST00000351936.11:c.1577T>A ENSP00000309878.10:p.Leu526His
ENST00000638709.2:c.407T>A ENSP00000491912.2:p.Leu136His
ENST00000682296.1:n.925T>A
ENST00000682550.1:c.1232T>A ENSP00000507633.1:p.Leu411His
ENST00000682772.1:c.407T>A ENSP00000506848.1:p.Leu136His
ENST00000682904.1:n.403T>A
ENST00000683211.1:c.1577T>A ENSP00000508257.1:p.Leu526His
ENST00000683250.1:c.*285T>A ENSP00000506847.1:n.*285T>A
ENST00000683418.1:n.3924T>A
ENST00000684153.1:c.1232T>A ENSP00000506937.1:p.Leu411His
ENST00000684516.1:n.2596T>A
ENST00000358487.10:c.1583T>A MANE Select ENSP00000351276.6:p.Leu528His
ENST00000336553.10:c.1310T>A ENSP00000337665.6:p.Leu437His
ENST00000346997.6:c.1577T>A ENSP00000263451.5:p.Leu526His
ENST00000351936.10:c.1583T>A ENSP00000309878.9:p.Leu528His
ENST00000356226.8:c.1232T>A ENSP00000348559.4:p.Leu411His
ENST00000357555.9:c.1316T>A ENSP00000350166.5:p.Leu439His
ENST00000358487.9:c.1583T>A ENSP00000351276.5:p.Leu528His
ENST00000360144.7:c.1319T>A ENSP00000353262.3:p.Leu440His
ENST00000369056.5:c.1586T>A ENSP00000358052.1:p.Leu529His
ENST00000369058.7:c.1586T>A ENSP00000358054.3:p.Leu529His
ENST00000369059.5:c.1241T>A ENSP00000358055.1:p.Leu414His
ENST00000369060.8:c.1235T>A ENSP00000358056.4:p.Leu412His
ENST00000369061.8:c.1247T>A ENSP00000358057.4:p.Leu416His
ENST00000429361.5:c.359T>A ENSP00000404219.1:p.Leu120His
ENST00000457416.6:c.1586T>A ENSP00000410294.2:p.Leu529His
ENST00000478859.5:c.899T>A ENSP00000474011.1:p.Leu300His
ENST00000604236.5:c.*630T>A ENSP00000474109.1:n.*630T>A
ENST00000613048.4:c.1316T>A ENSP00000484154.1:p.Leu439His
NM_000141.4:c.1583T>A NP_000132.3:p.Leu528His
NM_001144913.1:c.1586T>A NP_001138385.1:p.Leu529His
NM_001144914.1:c.1247T>A NP_001138386.1:p.Leu416His
NM_001144915.1:c.1316T>A NP_001138387.1:p.Leu439His
NM_001144916.1:c.1238T>A NP_001138388.1:p.Leu413His
NM_001144917.1:c.1235T>A NP_001138389.1:p.Leu412His
NM_001144918.1:c.1232T>A NP_001138390.1:p.Leu411His
NM_001144919.1:c.1319T>A NP_001138391.1:p.Leu440His
NM_022970.3:c.1586T>A NP_075259.4:p.Leu529His
NM_023029.2:c.1316T>A NP_075418.1:p.Leu439His
NR_073009.1:n.2033T>A
XM_006717708.2:c.1637T>A XP_006717771.1:p.Leu546His
XM_006717709.2:c.1634T>A XP_006717772.1:p.Leu545His
XM_006717710.2:c.1643T>A XP_006717773.1:p.Leu548His
XM_006717711.2:c.1376T>A XP_006717774.1:p.Leu459His
XM_006717712.2:c.1298T>A XP_006717775.1:p.Leu433His
XM_006717713.2:c.1640T>A XP_006717776.1:p.Leu547His
XM_011539510.1:c.899T>A XP_011537812.1:p.Leu300His
NM_001320654.1:c.899T>A NP_001307583.1:p.Leu300His
NM_001320658.1:c.1577T>A NP_001307587.1:p.Leu526His
XM_006717708.3:c.1637T>A XP_006717771.1:p.Leu546His
XM_006717710.4:c.1643T>A XP_006717773.1:p.Leu548His
XM_017015920.2:c.1637T>A XP_016871409.1:p.Leu546His
XM_017015921.2:c.1634T>A XP_016871410.1:p.Leu545His
XM_017015924.2:c.1295T>A XP_016871413.1:p.Leu432His
XM_017015925.2:c.1289T>A XP_016871414.1:p.Leu430His
XM_024447887.1:c.1373T>A XP_024303655.1:p.Leu458His
XM_024447888.1:c.1370T>A XP_024303656.1:p.Leu457His
XM_024447889.1:c.1367T>A XP_024303657.1:p.Leu456His
XM_024447890.1:c.1376T>A XP_024303658.1:p.Leu459His
XM_024447891.1:c.1298T>A XP_024303659.1:p.Leu433His
XM_024447892.1:c.413T>A XP_024303660.1:p.Leu138His
NM_000141.5:c.1583T>A MANE Select NP_000132.3:p.Leu528His
NM_001144917.2:c.1235T>A NP_001138389.1:p.Leu412His
NM_001144918.2:c.1232T>A NP_001138390.1:p.Leu411His
NM_001144919.2:c.1319T>A NP_001138391.1:p.Leu440His
NM_001320658.2:c.1577T>A NP_001307587.1:p.Leu526His
NR_073009.2:n.2019T>A
NM_001144915.2:c.1316T>A NP_001138387.1:p.Leu439His
NM_001144916.2:c.1238T>A NP_001138388.1:p.Leu413His
NM_001320654.2:c.899T>A NP_001307583.1:p.Leu300His