Canonical Allele Identifier: CA1139661701

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 981191
• ClinVar RCV Id: RCV001263201
• dbSNP Id: rs1850299732

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121520090_121520095dup , CM000672.2:g.121520090_121520095dup	GRCh38
NC_000010.10:g.123279604_123279609dup , CM000672.1:g.123279604_123279609dup	GRCh37
NC_000010.9:g.123269594_123269599dup	NCBI36
NG_012449.1:g.83365_83370dup
NG_012449.2:g.83365_83370dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.824_829dup MANE Plus Clinical	ENSP00000410294.2:p.Phe276_Val277insGluPhe
ENST00000351936.11:c.824_829dup	ENSP00000309878.10:p.Phe276_Val277insGluPhe
ENST00000638709.2:c.-347_-342dup	ENSP00000491912.2:n.-347_-342dup
ENST00000682296.1:n.172_177dup
ENST00000682400.1:n.479_484dup
ENST00000682550.1:c.479_484dup	ENSP00000507633.1:p.Phe161_Val162insGluPhe
ENST00000682772.1:c.-347_-342dup	ENSP00000506848.1:n.-347_-342dup
ENST00000683211.1:c.824_829dup	ENSP00000508257.1:p.Phe276_Val277insGluPhe
ENST00000683250.1:c.404-16153_404-16148dup	ENSP00000506847.1:n.404-16153_404-16148dup
ENST00000683418.1:n.3171_3176dup
ENST00000683678.1:n.824_829dup
ENST00000684153.1:c.479_484dup	ENSP00000506937.1:p.Phe161_Val162insGluPhe
ENST00000358487.10:c.824_829dup MANE Select	ENSP00000351276.6:p.Phe276_Val277insGluPhe
ENST00000336553.10:c.557_562dup	ENSP00000337665.6:p.Phe187_Val188insGluPhe
ENST00000346997.6:c.824_829dup	ENSP00000263451.5:p.Phe276_Val277insGluPhe
ENST00000351936.10:c.824_829dup	ENSP00000309878.9:p.Phe276_Val277insGluPhe
ENST00000356226.8:c.479_484dup	ENSP00000348559.4:p.Phe161_Val162insGluPhe
ENST00000357555.9:c.557_562dup	ENSP00000350166.5:p.Phe187_Val188insGluPhe
ENST00000358487.9:c.824_829dup	ENSP00000351276.5:p.Phe276_Val277insGluPhe
ENST00000360144.7:c.557_562dup	ENSP00000353262.3:p.Phe187_Val188insGluPhe
ENST00000369056.5:c.824_829dup	ENSP00000358052.1:p.Phe276_Val277insGluPhe
ENST00000369058.7:c.824_829dup	ENSP00000358054.3:p.Phe276_Val277insGluPhe
ENST00000369059.5:c.479_484dup	ENSP00000358055.1:p.Phe161_Val162insGluPhe
ENST00000369060.8:c.824_829dup	ENSP00000358056.4:p.Phe276_Val277insGluPhe
ENST00000369061.8:c.749-4775_749-4770dup	ENSP00000358057.4:n.749-4775_749-4770dup
ENST00000457416.6:c.824_829dup	ENSP00000410294.2:p.Phe276_Val277insGluPhe
ENST00000478859.5:c.140_145dup	ENSP00000474011.1:p.Phe48_Val49insGluPhe
ENST00000490349.5:n.1085_1090dup
ENST00000604236.5:c.479_484dup	ENSP00000474109.1:p.Phe161_Val162insGluPhe
ENST00000613048.4:c.557_562dup	ENSP00000484154.1:p.Phe187_Val188insGluPhe
NM_000141.4:c.824_829dup	NP_000132.3:p.Phe276_Val277insGluPhe
NM_001144913.1:c.824_829dup	NP_001138385.1:p.Phe276_Val277insGluPhe
NM_001144914.1:c.749-4775_749-4770dup	NP_001138386.1:n.749-4775_749-4770dup
NM_001144915.1:c.557_562dup	NP_001138387.1:p.Phe187_Val188insGluPhe
NM_001144916.1:c.479_484dup	NP_001138388.1:p.Phe161_Val162insGluPhe
NM_001144917.1:c.824_829dup	NP_001138389.1:p.Phe276_Val277insGluPhe
NM_001144918.1:c.479_484dup	NP_001138390.1:p.Phe161_Val162insGluPhe
NM_001144919.1:c.557_562dup	NP_001138391.1:p.Phe187_Val188insGluPhe
NM_022970.3:c.824_829dup	NP_075259.4:p.Phe276_Val277insGluPhe
NM_023029.2:c.557_562dup	NP_075418.1:p.Phe187_Val188insGluPhe
NR_073009.1:n.1126_1131dup
XM_006717708.2:c.881_886dup	XP_006717771.1:p.Phe295_Val296insGluPhe
XM_006717709.2:c.881_886dup	XP_006717772.1:p.Phe295_Val296insGluPhe
XM_006717710.2:c.881_886dup	XP_006717773.1:p.Phe295_Val296insGluPhe
XM_006717711.2:c.614_619dup	XP_006717774.1:p.Phe206_Val207insGluPhe
XM_006717712.2:c.536_541dup	XP_006717775.1:p.Phe180_Val181insGluPhe
XM_006717713.2:c.881_886dup	XP_006717776.1:p.Phe295_Val296insGluPhe
XM_011539510.1:c.140_145dup	XP_011537812.1:p.Phe48_Val49insGluPhe
NM_001320654.1:c.140_145dup	NP_001307583.1:p.Phe48_Val49insGluPhe
NM_001320658.1:c.824_829dup	NP_001307587.1:p.Phe276_Val277insGluPhe
XM_006717708.3:c.881_886dup	XP_006717771.1:p.Phe295_Val296insGluPhe
XM_006717710.4:c.881_886dup	XP_006717773.1:p.Phe295_Val296insGluPhe
XM_017015920.2:c.881_886dup	XP_016871409.1:p.Phe295_Val296insGluPhe
XM_017015921.2:c.881_886dup	XP_016871410.1:p.Phe295_Val296insGluPhe
XM_017015924.2:c.536_541dup	XP_016871413.1:p.Phe180_Val181insGluPhe
XM_017015925.2:c.536_541dup	XP_016871414.1:p.Phe180_Val181insGluPhe
XM_024447887.1:c.614_619dup	XP_024303655.1:p.Phe206_Val207insGluPhe
XM_024447888.1:c.614_619dup	XP_024303656.1:p.Phe206_Val207insGluPhe
XM_024447889.1:c.614_619dup	XP_024303657.1:p.Phe206_Val207insGluPhe
XM_024447890.1:c.614_619dup	XP_024303658.1:p.Phe206_Val207insGluPhe
XM_024447891.1:c.536_541dup	XP_024303659.1:p.Phe180_Val181insGluPhe
XM_024447892.1:c.-347_-342dup	XP_024303660.1:n.-347_-342dup
NM_000141.5:c.824_829dup MANE Select	NP_000132.3:p.Phe276_Val277insGluPhe
NM_001144917.2:c.824_829dup	NP_001138389.1:p.Phe276_Val277insGluPhe
NM_001144918.2:c.479_484dup	NP_001138390.1:p.Phe161_Val162insGluPhe
NM_001144919.2:c.557_562dup	NP_001138391.1:p.Phe187_Val188insGluPhe
NM_001320658.2:c.824_829dup	NP_001307587.1:p.Phe276_Val277insGluPhe
NR_073009.2:n.1112_1117dup
NM_001144915.2:c.557_562dup	NP_001138387.1:p.Phe187_Val188insGluPhe
NM_001144916.2:c.479_484dup	NP_001138388.1:p.Phe161_Val162insGluPhe
NM_001320654.2:c.140_145dup	NP_001307583.1:p.Phe48_Val49insGluPhe