Canonical Allele Identifier: CA2580082430
Gene: FGFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2105788
ClinVar RCV Id: RCV003023635

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517388_121517389insAAT , CM000672.2:g.121517388_121517389insAAT GRCh38
NC_000010.10:g.123276902_123276903insAAT , CM000672.1:g.123276902_123276903insAAT GRCh37
NC_000010.9:g.123266892_123266893insAAT NCBI36
NG_012449.1:g.86070_86071insATT
NG_012449.2:g.86070_86071insATT

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1087+1293_1087+1294insATT MANE Plus Clinical ENSP00000410294.2:n.1087+1293_1087+1294in...
ENST00000351936.11:c.1014_1015insATT ENSP00000309878.10:p.Gly338_Glu339insIle
ENST00000638709.2:c.-157_-156insATT ENSP00000491912.2:n.-157_-156insATT
ENST00000682296.1:n.362_363insATT
ENST00000682400.1:n.669_670insATT
ENST00000682550.1:c.669_670insATT ENSP00000507633.1:p.Gly223_Glu224insIle
ENST00000682772.1:c.-157_-156insATT ENSP00000506848.1:n.-157_-156insATT
ENST00000683211.1:c.1014_1015insATT ENSP00000508257.1:p.Gly338_Glu339insIle
ENST00000683250.1:c.404-13448_404-13447insATT ENSP00000506847.1:n.404-13448_404-13447in...
ENST00000683418.1:n.3361_3362insATT
ENST00000683678.1:n.1014_1015insATT
ENST00000684153.1:c.669_670insATT ENSP00000506937.1:p.Gly223_Glu224insIle
ENST00000358487.10:c.1014_1015insATT MANE Select ENSP00000351276.6:p.Gly338_Glu339insIle
ENST00000336553.10:c.747_748insATT ENSP00000337665.6:p.Gly249_Glu250insIle
ENST00000346997.6:c.1014_1015insATT ENSP00000263451.5:p.Gly338_Glu339insIle
ENST00000351936.10:c.1020_1021insATT ENSP00000309878.9:p.Gly340_Glu341insIle
ENST00000356226.8:c.669_670insATT ENSP00000348559.4:p.Gly223_Glu224insIle
ENST00000357555.9:c.747_748insATT ENSP00000350166.5:p.Gly249_Glu250insIle
ENST00000358487.9:c.1014_1015insATT ENSP00000351276.5:p.Gly338_Glu339insIle
ENST00000360144.7:c.820+1293_820+1294insATT ENSP00000353262.3:n.820+1293_820+1294insA...
ENST00000369056.5:c.1087+1293_1087+1294insATT ENSP00000358052.1:n.1087+1293_1087+1294in...
ENST00000369058.7:c.1087+1293_1087+1294insATT ENSP00000358054.3:n.1087+1293_1087+1294in...
ENST00000369059.5:c.742+1293_742+1294insATT ENSP00000358055.1:n.742+1293_742+1294insA...
ENST00000369060.8:c.939+2590_939+2591insATT ENSP00000358056.4:n.939+2590_939+2591insA...
ENST00000369061.8:c.749-2070_749-2069insATT ENSP00000358057.4:n.749-2070_749-2069insA...
ENST00000457416.6:c.1087+1293_1087+1294insATT ENSP00000410294.2:n.1087+1293_1087+1294in...
ENST00000463870.5:n.223_224insATT
ENST00000478859.5:c.330_331insATT ENSP00000474011.1:p.Gly110_Glu111insIle
ENST00000490349.5:n.1423_1424insATT
ENST00000604236.5:c.*61_*62insATT ENSP00000474109.1:n.*61_*62insATT
ENST00000613048.4:c.747_748insATT ENSP00000484154.1:p.Gly249_Glu250insIle
NM_000141.4:c.1014_1015insATT NP_000132.3:p.Gly338_Glu339insIle
NM_001144913.1:c.1087+1293_1087+1294insATT NP_001138385.1:n.1087+1293_1087+1294insAT...
NM_001144914.1:c.749-2070_749-2069insATT NP_001138386.1:n.749-2070_749-2069insATT
NM_001144915.1:c.747_748insATT NP_001138387.1:p.Gly249_Glu250insIle
NM_001144916.1:c.669_670insATT NP_001138388.1:p.Gly223_Glu224insIle
NM_001144917.1:c.939+2590_939+2591insATT NP_001138389.1:n.939+2590_939+2591insATT
NM_001144918.1:c.669_670insATT NP_001138390.1:p.Gly223_Glu224insIle
NM_001144919.1:c.820+1293_820+1294insATT NP_001138391.1:n.820+1293_820+1294insATT
NM_022970.3:c.1087+1293_1087+1294insATT NP_075259.4:n.1087+1293_1087+1294insATT
NM_023029.2:c.747_748insATT NP_075418.1:p.Gly249_Glu250insIle
NR_073009.1:n.1464_1465insATT
XM_006717708.2:c.1144+1293_1144+1294insATT XP_006717771.1:n.1144+1293_1144+1294insAT...
XM_006717709.2:c.1071_1072insATT XP_006717772.1:p.Gly357_Glu358insIle
XM_006717710.2:c.1144+1293_1144+1294insATT XP_006717773.1:n.1144+1293_1144+1294insAT...
XM_006717711.2:c.877+1293_877+1294insATT XP_006717774.1:n.877+1293_877+1294insATT
XM_006717712.2:c.799+1293_799+1294insATT XP_006717775.1:n.799+1293_799+1294insATT
XM_006717713.2:c.1071_1072insATT XP_006717776.1:p.Gly357_Glu358insIle
XM_011539510.1:c.330_331insATT XP_011537812.1:p.Gly110_Glu111insIle
NM_001320654.1:c.330_331insATT NP_001307583.1:p.Gly110_Glu111insIle
NM_001320658.1:c.1014_1015insATT NP_001307587.1:p.Gly338_Glu339insIle
XM_006717708.3:c.1144+1293_1144+1294insATT XP_006717771.1:n.1144+1293_1144+1294insAT...
XM_006717710.4:c.1144+1293_1144+1294insATT XP_006717773.1:n.1144+1293_1144+1294insAT...
XM_017015920.2:c.1144+1293_1144+1294insATT XP_016871409.1:n.1144+1293_1144+1294insAT...
XM_017015921.2:c.1071_1072insATT XP_016871410.1:p.Gly357_Glu358insIle
XM_017015924.2:c.726_727insATT XP_016871413.1:p.Gly242_Glu243insIle
XM_017015925.2:c.726_727insATT XP_016871414.1:p.Gly242_Glu243insIle
XM_024447887.1:c.804_805insATT XP_024303655.1:p.Gly268_Glu269insIle
XM_024447888.1:c.877+1293_877+1294insATT XP_024303656.1:n.877+1293_877+1294insATT
XM_024447889.1:c.804_805insATT XP_024303657.1:p.Gly268_Glu269insIle
XM_024447890.1:c.877+1293_877+1294insATT XP_024303658.1:n.877+1293_877+1294insATT
XM_024447891.1:c.799+1293_799+1294insATT XP_024303659.1:n.799+1293_799+1294insATT
XM_024447892.1:c.-157_-156insATT XP_024303660.1:n.-157_-156insATT
NM_000141.5:c.1014_1015insATT MANE Select NP_000132.3:p.Gly338_Glu339insIle
NM_001144917.2:c.939+2590_939+2591insATT NP_001138389.1:n.939+2590_939+2591insATT
NM_001144918.2:c.669_670insATT NP_001138390.1:p.Gly223_Glu224insIle
NM_001144919.2:c.820+1293_820+1294insATT NP_001138391.1:n.820+1293_820+1294insATT
NM_001320658.2:c.1014_1015insATT NP_001307587.1:p.Gly338_Glu339insIle
NR_073009.2:n.1450_1451insATT
NM_001144915.2:c.747_748insATT NP_001138387.1:p.Gly249_Glu250insIle
NM_001144916.2:c.669_670insATT NP_001138388.1:p.Gly223_Glu224insIle
NM_001320654.2:c.330_331insATT NP_001307583.1:p.Gly110_Glu111insIle