Canonical Allele Identifier: CA2611199548

Gene: FGFR2

Linked Data

• gnomAD v4: 10-121517351-G-GCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517351_121517352insCTA , CM000672.2:g.121517351_121517352insCTA	GRCh38
NC_000010.10:g.123276865_123276866insCTA , CM000672.1:g.123276865_123276866insCTA	GRCh37
NC_000010.9:g.123266855_123266856insCTA	NCBI36
NG_012449.1:g.86107_86108insTAG
NG_012449.2:g.86107_86108insTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1087+1330_1087+1331insTAG MANE Plus Clinical	ENSP00000410294.2:n.1087+1330_1087+1331in...
ENST00000351936.11:c.1051_1052insTAG	ENSP00000309878.10:p.Ser351delinsLeuAla
ENST00000638709.2:c.-120_-119insTAG	ENSP00000491912.2:n.-120_-119insTAG
ENST00000682296.1:n.399_400insTAG
ENST00000682400.1:n.706_707insTAG
ENST00000682550.1:c.706_707insTAG	ENSP00000507633.1:p.Ser236delinsLeuAla
ENST00000682772.1:c.-120_-119insTAG	ENSP00000506848.1:n.-120_-119insTAG
ENST00000683211.1:c.1051_1052insTAG	ENSP00000508257.1:p.Ser351delinsLeuAla
ENST00000683250.1:c.404-13411_404-13410insTAG	ENSP00000506847.1:n.404-13411_404-13410in...
ENST00000683418.1:n.3398_3399insTAG
ENST00000683678.1:n.1051_1052insTAG
ENST00000684153.1:c.706_707insTAG	ENSP00000506937.1:p.Ser236delinsLeuAla
ENST00000358487.10:c.1051_1052insTAG MANE Select	ENSP00000351276.6:p.Ser351delinsLeuAla
ENST00000336553.10:c.784_785insTAG	ENSP00000337665.6:p.Ser262delinsLeuAla
ENST00000346997.6:c.1051_1052insTAG	ENSP00000263451.5:p.Ser351delinsLeuAla
ENST00000351936.10:c.1057_1058insTAG	ENSP00000309878.9:p.Ser353delinsLeuAla
ENST00000356226.8:c.706_707insTAG	ENSP00000348559.4:p.Ser236delinsLeuAla
ENST00000357555.9:c.784_785insTAG	ENSP00000350166.5:p.Ser262delinsLeuAla
ENST00000358487.9:c.1051_1052insTAG	ENSP00000351276.5:p.Ser351delinsLeuAla
ENST00000360144.7:c.820+1330_820+1331insTAG	ENSP00000353262.3:n.820+1330_820+1331insT...
ENST00000369056.5:c.1087+1330_1087+1331insTAG	ENSP00000358052.1:n.1087+1330_1087+1331in...
ENST00000369058.7:c.1087+1330_1087+1331insTAG	ENSP00000358054.3:n.1087+1330_1087+1331in...
ENST00000369059.5:c.742+1330_742+1331insTAG	ENSP00000358055.1:n.742+1330_742+1331insT...
ENST00000369060.8:c.939+2627_939+2628insTAG	ENSP00000358056.4:n.939+2627_939+2628insT...
ENST00000369061.8:c.749-2033_749-2032insTAG	ENSP00000358057.4:n.749-2033_749-2032insT...
ENST00000457416.6:c.1087+1330_1087+1331insTAG	ENSP00000410294.2:n.1087+1330_1087+1331in...
ENST00000463870.5:n.260_261insTAG
ENST00000478859.5:c.367_368insTAG	ENSP00000474011.1:p.Ser123delinsLeuAla
ENST00000490349.5:n.1460_1461insTAG
ENST00000604236.5:c.*98_*99insTAG	ENSP00000474109.1:n.*98_*99insTAG
ENST00000613048.4:c.784_785insTAG	ENSP00000484154.1:p.Ser262delinsLeuAla
NM_000141.4:c.1051_1052insTAG	NP_000132.3:p.Ser351delinsLeuAla
NM_001144913.1:c.1087+1330_1087+1331insTAG	NP_001138385.1:n.1087+1330_1087+1331insTA...
NM_001144914.1:c.749-2033_749-2032insTAG	NP_001138386.1:n.749-2033_749-2032insTAG
NM_001144915.1:c.784_785insTAG	NP_001138387.1:p.Ser262delinsLeuAla
NM_001144916.1:c.706_707insTAG	NP_001138388.1:p.Ser236delinsLeuAla
NM_001144917.1:c.939+2627_939+2628insTAG	NP_001138389.1:n.939+2627_939+2628insTAG
NM_001144918.1:c.706_707insTAG	NP_001138390.1:p.Ser236delinsLeuAla
NM_001144919.1:c.820+1330_820+1331insTAG	NP_001138391.1:n.820+1330_820+1331insTAG
NM_022970.3:c.1087+1330_1087+1331insTAG	NP_075259.4:n.1087+1330_1087+1331insTAG
NM_023029.2:c.784_785insTAG	NP_075418.1:p.Ser262delinsLeuAla
NR_073009.1:n.1501_1502insTAG
XM_006717708.2:c.1144+1330_1144+1331insTAG	XP_006717771.1:n.1144+1330_1144+1331insTA...
XM_006717709.2:c.1108_1109insTAG	XP_006717772.1:p.Ser370delinsLeuAla
XM_006717710.2:c.1144+1330_1144+1331insTAG	XP_006717773.1:n.1144+1330_1144+1331insTA...
XM_006717711.2:c.877+1330_877+1331insTAG	XP_006717774.1:n.877+1330_877+1331insTAG
XM_006717712.2:c.799+1330_799+1331insTAG	XP_006717775.1:n.799+1330_799+1331insTAG
XM_006717713.2:c.1108_1109insTAG	XP_006717776.1:p.Ser370delinsLeuAla
XM_011539510.1:c.367_368insTAG	XP_011537812.1:p.Ser123delinsLeuAla
NM_001320654.1:c.367_368insTAG	NP_001307583.1:p.Ser123delinsLeuAla
NM_001320658.1:c.1051_1052insTAG	NP_001307587.1:p.Ser351delinsLeuAla
XM_006717708.3:c.1144+1330_1144+1331insTAG	XP_006717771.1:n.1144+1330_1144+1331insTA...
XM_006717710.4:c.1144+1330_1144+1331insTAG	XP_006717773.1:n.1144+1330_1144+1331insTA...
XM_017015920.2:c.1144+1330_1144+1331insTAG	XP_016871409.1:n.1144+1330_1144+1331insTA...
XM_017015921.2:c.1108_1109insTAG	XP_016871410.1:p.Ser370delinsLeuAla
XM_017015924.2:c.763_764insTAG	XP_016871413.1:p.Ser255delinsLeuAla
XM_017015925.2:c.763_764insTAG	XP_016871414.1:p.Ser255delinsLeuAla
XM_024447887.1:c.841_842insTAG	XP_024303655.1:p.Ser281delinsLeuAla
XM_024447888.1:c.877+1330_877+1331insTAG	XP_024303656.1:n.877+1330_877+1331insTAG
XM_024447889.1:c.841_842insTAG	XP_024303657.1:p.Ser281delinsLeuAla
XM_024447890.1:c.877+1330_877+1331insTAG	XP_024303658.1:n.877+1330_877+1331insTAG
XM_024447891.1:c.799+1330_799+1331insTAG	XP_024303659.1:n.799+1330_799+1331insTAG
XM_024447892.1:c.-120_-119insTAG	XP_024303660.1:n.-120_-119insTAG
NM_000141.5:c.1051_1052insTAG MANE Select	NP_000132.3:p.Ser351delinsLeuAla
NM_001144917.2:c.939+2627_939+2628insTAG	NP_001138389.1:n.939+2627_939+2628insTAG
NM_001144918.2:c.706_707insTAG	NP_001138390.1:p.Ser236delinsLeuAla
NM_001144919.2:c.820+1330_820+1331insTAG	NP_001138391.1:n.820+1330_820+1331insTAG
NM_001320658.2:c.1051_1052insTAG	NP_001307587.1:p.Ser351delinsLeuAla
NR_073009.2:n.1487_1488insTAG
NM_001144915.2:c.784_785insTAG	NP_001138387.1:p.Ser262delinsLeuAla
NM_001144916.2:c.706_707insTAG	NP_001138388.1:p.Ser236delinsLeuAla
NM_001320654.2:c.367_368insTAG	NP_001307583.1:p.Ser123delinsLeuAla