Canonical Allele Identifier: CA378327677
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517339G>T , CM000672.2:g.121517339G>T GRCh38
NC_000010.10:g.123276853G>T , CM000672.1:g.123276853G>T GRCh37
NC_000010.9:g.123266843G>T NCBI36
NG_012449.1:g.86120C>A
NG_012449.2:g.86120C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1087+1343C>A MANE Plus Clinical ENSP00000410294.2:n.1087+1343C>A
ENST00000351936.11:c.1064C>A ENSP00000309878.10:p.Ala355Glu
ENST00000638709.2:c.-107C>A ENSP00000491912.2:n.-107C>A
ENST00000682296.1:n.412C>A
ENST00000682400.1:n.719C>A
ENST00000682550.1:c.719C>A ENSP00000507633.1:p.Ala240Glu
ENST00000682772.1:c.-107C>A ENSP00000506848.1:n.-107C>A
ENST00000683211.1:c.1064C>A ENSP00000508257.1:p.Ala355Glu
ENST00000683250.1:c.404-13398C>A ENSP00000506847.1:n.404-13398C>A
ENST00000683418.1:n.3411C>A
ENST00000683678.1:n.1064C>A
ENST00000684153.1:c.719C>A ENSP00000506937.1:p.Ala240Glu
ENST00000358487.10:c.1064C>A MANE Select ENSP00000351276.6:p.Ala355Glu
ENST00000336553.10:c.797C>A ENSP00000337665.6:p.Ala266Glu
ENST00000346997.6:c.1064C>A ENSP00000263451.5:p.Ala355Glu
ENST00000351936.10:c.1070C>A ENSP00000309878.9:p.Ala357Glu
ENST00000356226.8:c.719C>A ENSP00000348559.4:p.Ala240Glu
ENST00000357555.9:c.797C>A ENSP00000350166.5:p.Ala266Glu
ENST00000358487.9:c.1064C>A ENSP00000351276.5:p.Ala355Glu
ENST00000360144.7:c.820+1343C>A ENSP00000353262.3:n.820+1343C>A
ENST00000369056.5:c.1087+1343C>A ENSP00000358052.1:n.1087+1343C>A
ENST00000369058.7:c.1087+1343C>A ENSP00000358054.3:n.1087+1343C>A
ENST00000369059.5:c.742+1343C>A ENSP00000358055.1:n.742+1343C>A
ENST00000369060.8:c.939+2640C>A ENSP00000358056.4:n.939+2640C>A
ENST00000369061.8:c.749-2020C>A ENSP00000358057.4:n.749-2020C>A
ENST00000457416.6:c.1087+1343C>A ENSP00000410294.2:n.1087+1343C>A
ENST00000463870.5:n.273C>A
ENST00000478859.5:c.380C>A ENSP00000474011.1:p.Ala127Glu
ENST00000490349.5:n.1473C>A
ENST00000604236.5:c.*111C>A ENSP00000474109.1:n.*111C>A
ENST00000613048.4:c.797C>A ENSP00000484154.1:p.Ala266Glu
NM_000141.4:c.1064C>A NP_000132.3:p.Ala355Glu
NM_001144913.1:c.1087+1343C>A NP_001138385.1:n.1087+1343C>A
NM_001144914.1:c.749-2020C>A NP_001138386.1:n.749-2020C>A
NM_001144915.1:c.797C>A NP_001138387.1:p.Ala266Glu
NM_001144916.1:c.719C>A NP_001138388.1:p.Ala240Glu
NM_001144917.1:c.939+2640C>A NP_001138389.1:n.939+2640C>A
NM_001144918.1:c.719C>A NP_001138390.1:p.Ala240Glu
NM_001144919.1:c.820+1343C>A NP_001138391.1:n.820+1343C>A
NM_022970.3:c.1087+1343C>A NP_075259.4:n.1087+1343C>A
NM_023029.2:c.797C>A NP_075418.1:p.Ala266Glu
NR_073009.1:n.1514C>A
XM_006717708.2:c.1144+1343C>A XP_006717771.1:n.1144+1343C>A
XM_006717709.2:c.1121C>A XP_006717772.1:p.Ala374Glu
XM_006717710.2:c.1144+1343C>A XP_006717773.1:n.1144+1343C>A
XM_006717711.2:c.877+1343C>A XP_006717774.1:n.877+1343C>A
XM_006717712.2:c.799+1343C>A XP_006717775.1:n.799+1343C>A
XM_006717713.2:c.1121C>A XP_006717776.1:p.Ala374Glu
XM_011539510.1:c.380C>A XP_011537812.1:p.Ala127Glu
NM_001320654.1:c.380C>A NP_001307583.1:p.Ala127Glu
NM_001320658.1:c.1064C>A NP_001307587.1:p.Ala355Glu
XM_006717708.3:c.1144+1343C>A XP_006717771.1:n.1144+1343C>A
XM_006717710.4:c.1144+1343C>A XP_006717773.1:n.1144+1343C>A
XM_017015920.2:c.1144+1343C>A XP_016871409.1:n.1144+1343C>A
XM_017015921.2:c.1121C>A XP_016871410.1:p.Ala374Glu
XM_017015924.2:c.776C>A XP_016871413.1:p.Ala259Glu
XM_017015925.2:c.776C>A XP_016871414.1:p.Ala259Glu
XM_024447887.1:c.854C>A XP_024303655.1:p.Ala285Glu
XM_024447888.1:c.877+1343C>A XP_024303656.1:n.877+1343C>A
XM_024447889.1:c.854C>A XP_024303657.1:p.Ala285Glu
XM_024447890.1:c.877+1343C>A XP_024303658.1:n.877+1343C>A
XM_024447891.1:c.799+1343C>A XP_024303659.1:n.799+1343C>A
XM_024447892.1:c.-107C>A XP_024303660.1:n.-107C>A
NM_000141.5:c.1064C>A MANE Select NP_000132.3:p.Ala355Glu
NM_001144917.2:c.939+2640C>A NP_001138389.1:n.939+2640C>A
NM_001144918.2:c.719C>A NP_001138390.1:p.Ala240Glu
NM_001144919.2:c.820+1343C>A NP_001138391.1:n.820+1343C>A
NM_001320658.2:c.1064C>A NP_001307587.1:p.Ala355Glu
NR_073009.2:n.1500C>A
NM_001144915.2:c.797C>A NP_001138387.1:p.Ala266Glu
NM_001144916.2:c.719C>A NP_001138388.1:p.Ala240Glu
NM_001320654.2:c.380C>A NP_001307583.1:p.Ala127Glu