Canonical Allele Identifier: CA2580082429
Gene: FGFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2131381
ClinVar RCV Id: RCV003048177

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517379_121517380delinsCT , CM000672.2:g.121517379_121517380delinsCT GRCh38
NC_000010.10:g.123276893_123276894delinsCT , CM000672.1:g.123276893_123276894delinsCT GRCh37
NC_000010.9:g.123266883_123266884delinsCT NCBI36
NG_012449.1:g.86079_86080delinsAG
NG_012449.2:g.86079_86080delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1087+1302_1087+1303delinsAG MANE Plus Clinical ENSP00000410294.2:n.1087+1302_1087+1303delinsAG
ENST00000351936.11:c.1023_1024delinsAG ENSP00000309878.10:p.Cys342Gly
ENST00000638709.2:c.-148_-147delinsAG ENSP00000491912.2:n.-148_-147delinsAG
ENST00000682296.1:n.371_372delinsAG
ENST00000682400.1:n.678_679delinsAG
ENST00000682550.1:c.678_679delinsAG ENSP00000507633.1:p.Cys227Gly
ENST00000682772.1:c.-148_-147delinsAG ENSP00000506848.1:n.-148_-147delinsAG
ENST00000683211.1:c.1023_1024delinsAG ENSP00000508257.1:p.Cys342Gly
ENST00000683250.1:c.404-13439_404-13438delinsAG ENSP00000506847.1:n.404-13439_404-13438delinsAG
ENST00000683418.1:n.3370_3371delinsAG
ENST00000683678.1:n.1023_1024delinsAG
ENST00000684153.1:c.678_679delinsAG ENSP00000506937.1:p.Cys227Gly
ENST00000358487.10:c.1023_1024delinsAG MANE Select ENSP00000351276.6:p.Cys342Gly
ENST00000336553.10:c.756_757delinsAG ENSP00000337665.6:p.Cys253Gly
ENST00000346997.6:c.1023_1024delinsAG ENSP00000263451.5:p.Cys342Gly
ENST00000351936.10:c.1029_1030delinsAG ENSP00000309878.9:p.Cys344Gly
ENST00000356226.8:c.678_679delinsAG ENSP00000348559.4:p.Cys227Gly
ENST00000357555.9:c.756_757delinsAG ENSP00000350166.5:p.Cys253Gly
ENST00000358487.9:c.1023_1024delinsAG ENSP00000351276.5:p.Cys342Gly
ENST00000360144.7:c.820+1302_820+1303delinsAG ENSP00000353262.3:n.820+1302_820+1303delinsAG
ENST00000369056.5:c.1087+1302_1087+1303delinsAG ENSP00000358052.1:n.1087+1302_1087+1303delinsAG
ENST00000369058.7:c.1087+1302_1087+1303delinsAG ENSP00000358054.3:n.1087+1302_1087+1303delinsAG
ENST00000369059.5:c.742+1302_742+1303delinsAG ENSP00000358055.1:n.742+1302_742+1303delinsAG
ENST00000369060.8:c.939+2599_939+2600delinsAG ENSP00000358056.4:n.939+2599_939+2600delinsAG
ENST00000369061.8:c.749-2061_749-2060delinsAG ENSP00000358057.4:n.749-2061_749-2060delinsAG
ENST00000457416.6:c.1087+1302_1087+1303delinsAG ENSP00000410294.2:n.1087+1302_1087+1303delinsAG
ENST00000463870.5:n.232_233delinsAG
ENST00000478859.5:c.339_340delinsAG ENSP00000474011.1:p.Cys114Gly
ENST00000490349.5:n.1432_1433delinsAG
ENST00000604236.5:c.*70_*71delinsAG ENSP00000474109.1:n.*70_*71delinsAG
ENST00000613048.4:c.756_757delinsAG ENSP00000484154.1:p.Cys253Gly
NM_000141.4:c.1023_1024delinsAG NP_000132.3:p.Cys342Gly
NM_001144913.1:c.1087+1302_1087+1303delinsAG NP_001138385.1:n.1087+1302_1087+1303delinsAG
NM_001144914.1:c.749-2061_749-2060delinsAG NP_001138386.1:n.749-2061_749-2060delinsAG
NM_001144915.1:c.756_757delinsAG NP_001138387.1:p.Cys253Gly
NM_001144916.1:c.678_679delinsAG NP_001138388.1:p.Cys227Gly
NM_001144917.1:c.939+2599_939+2600delinsAG NP_001138389.1:n.939+2599_939+2600delinsAG
NM_001144918.1:c.678_679delinsAG NP_001138390.1:p.Cys227Gly
NM_001144919.1:c.820+1302_820+1303delinsAG NP_001138391.1:n.820+1302_820+1303delinsAG
NM_022970.3:c.1087+1302_1087+1303delinsAG NP_075259.4:n.1087+1302_1087+1303delinsAG
NM_023029.2:c.756_757delinsAG NP_075418.1:p.Cys253Gly
NR_073009.1:n.1473_1474delinsAG
XM_006717708.2:c.1144+1302_1144+1303delinsAG XP_006717771.1:n.1144+1302_1144+1303delinsAG
XM_006717709.2:c.1080_1081delinsAG XP_006717772.1:p.Cys361Gly
XM_006717710.2:c.1144+1302_1144+1303delinsAG XP_006717773.1:n.1144+1302_1144+1303delinsAG
XM_006717711.2:c.877+1302_877+1303delinsAG XP_006717774.1:n.877+1302_877+1303delinsAG
XM_006717712.2:c.799+1302_799+1303delinsAG XP_006717775.1:n.799+1302_799+1303delinsAG
XM_006717713.2:c.1080_1081delinsAG XP_006717776.1:p.Cys361Gly
XM_011539510.1:c.339_340delinsAG XP_011537812.1:p.Cys114Gly
NM_001320654.1:c.339_340delinsAG NP_001307583.1:p.Cys114Gly
NM_001320658.1:c.1023_1024delinsAG NP_001307587.1:p.Cys342Gly
XM_006717708.3:c.1144+1302_1144+1303delinsAG XP_006717771.1:n.1144+1302_1144+1303delinsAG
XM_006717710.4:c.1144+1302_1144+1303delinsAG XP_006717773.1:n.1144+1302_1144+1303delinsAG
XM_017015920.2:c.1144+1302_1144+1303delinsAG XP_016871409.1:n.1144+1302_1144+1303delinsAG
XM_017015921.2:c.1080_1081delinsAG XP_016871410.1:p.Cys361Gly
XM_017015924.2:c.735_736delinsAG XP_016871413.1:p.Cys246Gly
XM_017015925.2:c.735_736delinsAG XP_016871414.1:p.Cys246Gly
XM_024447887.1:c.813_814delinsAG XP_024303655.1:p.Cys272Gly
XM_024447888.1:c.877+1302_877+1303delinsAG XP_024303656.1:n.877+1302_877+1303delinsAG
XM_024447889.1:c.813_814delinsAG XP_024303657.1:p.Cys272Gly
XM_024447890.1:c.877+1302_877+1303delinsAG XP_024303658.1:n.877+1302_877+1303delinsAG
XM_024447891.1:c.799+1302_799+1303delinsAG XP_024303659.1:n.799+1302_799+1303delinsAG
XM_024447892.1:c.-148_-147delinsAG XP_024303660.1:n.-148_-147delinsAG
NM_000141.5:c.1023_1024delinsAG MANE Select NP_000132.3:p.Cys342Gly
NM_001144917.2:c.939+2599_939+2600delinsAG NP_001138389.1:n.939+2599_939+2600delinsAG
NM_001144918.2:c.678_679delinsAG NP_001138390.1:p.Cys227Gly
NM_001144919.2:c.820+1302_820+1303delinsAG NP_001138391.1:n.820+1302_820+1303delinsAG
NM_001320658.2:c.1023_1024delinsAG NP_001307587.1:p.Cys342Gly
NR_073009.2:n.1459_1460delinsAG
NM_001144915.2:c.756_757delinsAG NP_001138387.1:p.Cys253Gly
NM_001144916.2:c.678_679delinsAG NP_001138388.1:p.Cys227Gly
NM_001320654.2:c.339_340delinsAG NP_001307583.1:p.Cys114Gly