Canonical Allele Identifier: CA596578656

Gene: FGFR2

Linked Data

• dbSNP Id: rs1286657912
• gnomAD v2: 10-123274700-C-CT
• gnomAD v4: 10-121515186-C-CT
• MyVariant Identifiers: chr10:g.123274700_123274701insT (hg19) ; chr10:g.121515186_121515187insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515188dup , CM000672.2:g.121515188dup	GRCh38
NC_000010.10:g.123274702dup , CM000672.1:g.123274702dup	GRCh37
NC_000010.9:g.123264692dup	NCBI36
NG_012449.1:g.88272dup
NG_012449.2:g.88272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1220dup MANE Plus Clinical	ENSP00000410294.2:p.Pro408AlafsTer27
ENST00000351936.11:c.1217dup	ENSP00000309878.10:p.Pro407AlafsTer25
ENST00000638709.2:c.47dup	ENSP00000491912.2:p.Pro17AlafsTer25
ENST00000682296.1:n.565dup
ENST00000682550.1:c.872dup	ENSP00000507633.1:p.Pro292AlafsTer25
ENST00000682772.1:c.47dup	ENSP00000506848.1:p.Pro17AlafsTer25
ENST00000683211.1:c.1217dup	ENSP00000508257.1:p.Pro407AlafsTer25
ENST00000683250.1:c.404-11246dup	ENSP00000506847.1:n.404-11246dup
ENST00000683418.1:n.3564dup
ENST00000684153.1:c.872dup	ENSP00000506937.1:p.Pro292AlafsTer25
ENST00000358487.10:c.1217dup MANE Select	ENSP00000351276.6:p.Pro407AlafsTer27
ENST00000336553.10:c.950dup	ENSP00000337665.6:p.Pro318AlafsTer25
ENST00000346997.6:c.1217dup	ENSP00000263451.5:p.Pro407AlafsTer25
ENST00000351936.10:c.1223dup	ENSP00000309878.9:p.Pro409AlafsTer25
ENST00000356226.8:c.872dup	ENSP00000348559.4:p.Pro292AlafsTer25
ENST00000357555.9:c.950dup	ENSP00000350166.5:p.Pro318AlafsTer27
ENST00000358487.9:c.1217dup	ENSP00000351276.5:p.Pro407AlafsTer27
ENST00000360144.7:c.953dup	ENSP00000353262.3:p.Pro319AlafsTer27
ENST00000369056.5:c.1220dup	ENSP00000358052.1:p.Pro408AlafsTer27
ENST00000369058.7:c.1220dup	ENSP00000358054.3:p.Pro408AlafsTer27
ENST00000369059.5:c.875dup	ENSP00000358055.1:p.Pro293AlafsTer27
ENST00000369060.8:c.939+4792dup	ENSP00000358056.4:n.939+4792dup
ENST00000369061.8:c.881dup	ENSP00000358057.4:p.Pro295AlafsTer27
ENST00000457416.6:c.1220dup	ENSP00000410294.2:p.Pro408AlafsTer27
ENST00000478859.5:c.533dup	ENSP00000474011.1:p.Pro179AlafsTer27
ENST00000604236.5:c.*264dup	ENSP00000474109.1:n.*264dup
ENST00000613048.4:c.950dup	ENSP00000484154.1:p.Pro318AlafsTer27
NM_000141.4:c.1217dup	NP_000132.3:p.Pro407AlafsTer27
NM_001144913.1:c.1220dup	NP_001138385.1:p.Pro408AlafsTer27
NM_001144914.1:c.881dup	NP_001138386.1:p.Pro295AlafsTer27
NM_001144915.1:c.950dup	NP_001138387.1:p.Pro318AlafsTer27
NM_001144916.1:c.872dup	NP_001138388.1:p.Pro292AlafsTer27
NM_001144917.1:c.939+4792dup	NP_001138389.1:n.939+4792dup
NM_001144918.1:c.872dup	NP_001138390.1:p.Pro292AlafsTer25
NM_001144919.1:c.953dup	NP_001138391.1:p.Pro319AlafsTer27
NM_022970.3:c.1220dup	NP_075259.4:p.Pro408AlafsTer27
NM_023029.2:c.950dup	NP_075418.1:p.Pro318AlafsTer27
NR_073009.1:n.1667dup
XM_006717708.2:c.1277dup	XP_006717771.1:p.Pro427AlafsTer25
XM_006717709.2:c.1274dup	XP_006717772.1:p.Pro426AlafsTer25
XM_006717710.2:c.1277dup	XP_006717773.1:p.Pro427AlafsTer27
XM_006717711.2:c.1010dup	XP_006717774.1:p.Pro338AlafsTer27
XM_006717712.2:c.932dup	XP_006717775.1:p.Pro312AlafsTer27
XM_006717713.2:c.1274dup	XP_006717776.1:p.Pro426AlafsTer27
XM_011539510.1:c.533dup	XP_011537812.1:p.Pro179AlafsTer27
NM_001320654.1:c.533dup	NP_001307583.1:p.Pro179AlafsTer27
NM_001320658.1:c.1217dup	NP_001307587.1:p.Pro407AlafsTer25
XM_006717708.3:c.1277dup	XP_006717771.1:p.Pro427AlafsTer25
XM_006717710.4:c.1277dup	XP_006717773.1:p.Pro427AlafsTer27
XM_017015920.2:c.1277dup	XP_016871409.1:p.Pro427AlafsTer25
XM_017015921.2:c.1274dup	XP_016871410.1:p.Pro426AlafsTer25
XM_017015924.2:c.929dup	XP_016871413.1:p.Pro311AlafsTer27
XM_017015925.2:c.929dup	XP_016871414.1:p.Pro311AlafsTer25
XM_024447887.1:c.1007dup	XP_024303655.1:p.Pro337AlafsTer27
XM_024447888.1:c.1010dup	XP_024303656.1:p.Pro338AlafsTer25
XM_024447889.1:c.1007dup	XP_024303657.1:p.Pro337AlafsTer25
XM_024447890.1:c.1010dup	XP_024303658.1:p.Pro338AlafsTer27
XM_024447891.1:c.932dup	XP_024303659.1:p.Pro312AlafsTer27
XM_024447892.1:c.47dup	XP_024303660.1:p.Pro17AlafsTer27
NM_000141.5:c.1217dup MANE Select	NP_000132.3:p.Pro407AlafsTer27
NM_001144917.2:c.939+4792dup	NP_001138389.1:n.939+4792dup
NM_001144918.2:c.872dup	NP_001138390.1:p.Pro292AlafsTer25
NM_001144919.2:c.953dup	NP_001138391.1:p.Pro319AlafsTer27
NM_001320658.2:c.1217dup	NP_001307587.1:p.Pro407AlafsTer25
NR_073009.2:n.1653dup
NM_001144915.2:c.950dup	NP_001138387.1:p.Pro318AlafsTer27
NM_001144916.2:c.872dup	NP_001138388.1:p.Pro292AlafsTer27
NM_001320654.2:c.533dup	NP_001307583.1:p.Pro179AlafsTer27