Canonical Allele Identifier: CA2499220180
Gene: FGFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1176274
ClinVar RCV Id: RCV001531717
dbSNP Id: rs2134257361

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517392_121517394del , CM000672.2:g.121517392_121517394del GRCh38
NC_000010.10:g.123276906_123276908del , CM000672.1:g.123276906_123276908del GRCh37
NC_000010.9:g.123266896_123266898del NCBI36
NG_012449.1:g.86066_86068del
NG_012449.2:g.86066_86068del

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1087+1289_1087+1291del MANE Plus Clinical ENSP00000410294.2:n.1087+1289_1087+1291de...
ENST00000351936.11:c.1010_1012del ENSP00000309878.10:p.Ala337del
ENST00000638709.2:c.-161_-159del ENSP00000491912.2:n.-161_-159del
ENST00000682296.1:n.358_360del
ENST00000682400.1:n.665_667del
ENST00000682550.1:c.665_667del ENSP00000507633.1:p.Ala222del
ENST00000682772.1:c.-161_-159del ENSP00000506848.1:n.-161_-159del
ENST00000683211.1:c.1010_1012del ENSP00000508257.1:p.Ala337del
ENST00000683250.1:c.404-13452_404-13450del ENSP00000506847.1:n.404-13452_404-13450de...
ENST00000683418.1:n.3357_3359del
ENST00000683678.1:n.1010_1012del
ENST00000684153.1:c.665_667del ENSP00000506937.1:p.Ala222del
ENST00000358487.10:c.1010_1012del MANE Select ENSP00000351276.6:p.Ala337del
ENST00000336553.10:c.743_745del ENSP00000337665.6:p.Ala248del
ENST00000346997.6:c.1010_1012del ENSP00000263451.5:p.Ala337del
ENST00000351936.10:c.1016_1018del ENSP00000309878.9:p.Ala339del
ENST00000356226.8:c.665_667del ENSP00000348559.4:p.Ala222del
ENST00000357555.9:c.743_745del ENSP00000350166.5:p.Ala248del
ENST00000358487.9:c.1010_1012del ENSP00000351276.5:p.Ala337del
ENST00000360144.7:c.820+1289_820+1291del ENSP00000353262.3:n.820+1289_820+1291del
ENST00000369056.5:c.1087+1289_1087+1291del ENSP00000358052.1:n.1087+1289_1087+1291de...
ENST00000369058.7:c.1087+1289_1087+1291del ENSP00000358054.3:n.1087+1289_1087+1291de...
ENST00000369059.5:c.742+1289_742+1291del ENSP00000358055.1:n.742+1289_742+1291del
ENST00000369060.8:c.939+2586_939+2588del ENSP00000358056.4:n.939+2586_939+2588del
ENST00000369061.8:c.749-2074_749-2072del ENSP00000358057.4:n.749-2074_749-2072del
ENST00000457416.6:c.1087+1289_1087+1291del ENSP00000410294.2:n.1087+1289_1087+1291de...
ENST00000463870.5:n.219_221del
ENST00000478859.5:c.326_328del ENSP00000474011.1:p.Ala109del
ENST00000490349.5:n.1419_1421del
ENST00000604236.5:c.*57_*59del ENSP00000474109.1:n.*57_*59del
ENST00000613048.4:c.743_745del ENSP00000484154.1:p.Ala248del
NM_000141.4:c.1010_1012del NP_000132.3:p.Ala337del
NM_001144913.1:c.1087+1289_1087+1291del NP_001138385.1:n.1087+1289_1087+1291del
NM_001144914.1:c.749-2074_749-2072del NP_001138386.1:n.749-2074_749-2072del
NM_001144915.1:c.743_745del NP_001138387.1:p.Ala248del
NM_001144916.1:c.665_667del NP_001138388.1:p.Ala222del
NM_001144917.1:c.939+2586_939+2588del NP_001138389.1:n.939+2586_939+2588del
NM_001144918.1:c.665_667del NP_001138390.1:p.Ala222del
NM_001144919.1:c.820+1289_820+1291del NP_001138391.1:n.820+1289_820+1291del
NM_022970.3:c.1087+1289_1087+1291del NP_075259.4:n.1087+1289_1087+1291del
NM_023029.2:c.743_745del NP_075418.1:p.Ala248del
NR_073009.1:n.1460_1462del
XM_006717708.2:c.1144+1289_1144+1291del XP_006717771.1:n.1144+1289_1144+1291del
XM_006717709.2:c.1067_1069del XP_006717772.1:p.Ala356del
XM_006717710.2:c.1144+1289_1144+1291del XP_006717773.1:n.1144+1289_1144+1291del
XM_006717711.2:c.877+1289_877+1291del XP_006717774.1:n.877+1289_877+1291del
XM_006717712.2:c.799+1289_799+1291del XP_006717775.1:n.799+1289_799+1291del
XM_006717713.2:c.1067_1069del XP_006717776.1:p.Ala356del
XM_011539510.1:c.326_328del XP_011537812.1:p.Ala109del
NM_001320654.1:c.326_328del NP_001307583.1:p.Ala109del
NM_001320658.1:c.1010_1012del NP_001307587.1:p.Ala337del
XM_006717708.3:c.1144+1289_1144+1291del XP_006717771.1:n.1144+1289_1144+1291del
XM_006717710.4:c.1144+1289_1144+1291del XP_006717773.1:n.1144+1289_1144+1291del
XM_017015920.2:c.1144+1289_1144+1291del XP_016871409.1:n.1144+1289_1144+1291del
XM_017015921.2:c.1067_1069del XP_016871410.1:p.Ala356del
XM_017015924.2:c.722_724del XP_016871413.1:p.Ala241del
XM_017015925.2:c.722_724del XP_016871414.1:p.Ala241del
XM_024447887.1:c.800_802del XP_024303655.1:p.Ala267del
XM_024447888.1:c.877+1289_877+1291del XP_024303656.1:n.877+1289_877+1291del
XM_024447889.1:c.800_802del XP_024303657.1:p.Ala267del
XM_024447890.1:c.877+1289_877+1291del XP_024303658.1:n.877+1289_877+1291del
XM_024447891.1:c.799+1289_799+1291del XP_024303659.1:n.799+1289_799+1291del
XM_024447892.1:c.-161_-159del XP_024303660.1:n.-161_-159del
NM_000141.5:c.1010_1012del MANE Select NP_000132.3:p.Ala337del
NM_001144917.2:c.939+2586_939+2588del NP_001138389.1:n.939+2586_939+2588del
NM_001144918.2:c.665_667del NP_001138390.1:p.Ala222del
NM_001144919.2:c.820+1289_820+1291del NP_001138391.1:n.820+1289_820+1291del
NM_001320658.2:c.1010_1012del NP_001307587.1:p.Ala337del
NR_073009.2:n.1446_1448del
NM_001144915.2:c.743_745del NP_001138387.1:p.Ala248del
NM_001144916.2:c.665_667del NP_001138388.1:p.Ala222del
NM_001320654.2:c.326_328del NP_001307583.1:p.Ala109del