Canonical Allele Identifier: CA5720807

Gene: FGFR2

Linked Data

• dbSNP Id: rs781717945
• ExAC: 10:123274658 TTTGGTCAGC / T
• gnomAD v2: 10-123274658-TTTGGTCAGC-T
• MyVariant Identifiers: chr10:g.123274659_123274667del (hg19) ; chr10:g.121515145_121515153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515148_121515156del , CM000672.2:g.121515148_121515156del	GRCh38
NC_000010.10:g.123274662_123274670del , CM000672.1:g.123274662_123274670del	GRCh37
NC_000010.9:g.123264652_123264660del	NCBI36
NG_012449.1:g.88306_88314del
NG_012449.2:g.88306_88314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1254_1262del MANE Plus Clinical	ENSP00000410294.2:p.Leu419_Lys421del
ENST00000351936.11:c.1251_1259del	ENSP00000309878.10:p.Leu418_Lys420del
ENST00000638709.2:c.81_89del	ENSP00000491912.2:p.Leu28_Lys30del
ENST00000682296.1:n.599_607del
ENST00000682550.1:c.906_914del	ENSP00000507633.1:p.Leu303_Lys305del
ENST00000682772.1:c.81_89del	ENSP00000506848.1:p.Leu28_Lys30del
ENST00000683211.1:c.1251_1259del	ENSP00000508257.1:p.Leu418_Lys420del
ENST00000683250.1:c.404-11212_404-11204del	ENSP00000506847.1:n.404-11212_404-11204del
ENST00000683418.1:n.3598_3606del
ENST00000684153.1:c.906_914del	ENSP00000506937.1:p.Leu303_Lys305del
ENST00000358487.10:c.1251_1259del MANE Select	ENSP00000351276.6:p.Leu418_Lys420del
ENST00000336553.10:c.984_992del	ENSP00000337665.6:p.Leu329_Lys331del
ENST00000346997.6:c.1251_1259del	ENSP00000263451.5:p.Leu418_Lys420del
ENST00000351936.10:c.1257_1265del	ENSP00000309878.9:p.Leu420_Lys422del
ENST00000356226.8:c.906_914del	ENSP00000348559.4:p.Leu303_Lys305del
ENST00000357555.9:c.984_992del	ENSP00000350166.5:p.Leu329_Lys331del
ENST00000358487.9:c.1251_1259del	ENSP00000351276.5:p.Leu418_Lys420del
ENST00000360144.7:c.987_995del	ENSP00000353262.3:p.Leu330_Lys332del
ENST00000369056.5:c.1254_1262del	ENSP00000358052.1:p.Leu419_Lys421del
ENST00000369058.7:c.1254_1262del	ENSP00000358054.3:p.Leu419_Lys421del
ENST00000369059.5:c.909_917del	ENSP00000358055.1:p.Leu304_Lys306del
ENST00000369060.8:c.939+4826_939+4834del	ENSP00000358056.4:n.939+4826_939+4834del
ENST00000369061.8:c.915_923del	ENSP00000358057.4:p.Leu306_Lys308del
ENST00000429361.5:c.27_35del	ENSP00000404219.1:p.Leu10_Lys12del
ENST00000457416.6:c.1254_1262del	ENSP00000410294.2:p.Leu419_Lys421del
ENST00000478859.5:c.567_575del	ENSP00000474011.1:p.Leu190_Lys192del
ENST00000604236.5:c.*298_*306del	ENSP00000474109.1:n.*298_*306del
ENST00000613048.4:c.984_992del	ENSP00000484154.1:p.Leu329_Lys331del
NM_000141.4:c.1251_1259del	NP_000132.3:p.Leu418_Lys420del
NM_001144913.1:c.1254_1262del	NP_001138385.1:p.Leu419_Lys421del
NM_001144914.1:c.915_923del	NP_001138386.1:p.Leu306_Lys308del
NM_001144915.1:c.984_992del	NP_001138387.1:p.Leu329_Lys331del
NM_001144916.1:c.906_914del	NP_001138388.1:p.Leu303_Lys305del
NM_001144917.1:c.939+4826_939+4834del	NP_001138389.1:n.939+4826_939+4834del
NM_001144918.1:c.906_914del	NP_001138390.1:p.Leu303_Lys305del
NM_001144919.1:c.987_995del	NP_001138391.1:p.Leu330_Lys332del
NM_022970.3:c.1254_1262del	NP_075259.4:p.Leu419_Lys421del
NM_023029.2:c.984_992del	NP_075418.1:p.Leu329_Lys331del
NR_073009.1:n.1701_1709del
XM_006717708.2:c.1311_1319del	XP_006717771.1:p.Leu438_Lys440del
XM_006717709.2:c.1308_1316del	XP_006717772.1:p.Leu437_Lys439del
XM_006717710.2:c.1311_1319del	XP_006717773.1:p.Leu438_Lys440del
XM_006717711.2:c.1044_1052del	XP_006717774.1:p.Leu349_Lys351del
XM_006717712.2:c.966_974del	XP_006717775.1:p.Leu323_Lys325del
XM_006717713.2:c.1308_1316del	XP_006717776.1:p.Leu437_Lys439del
XM_011539510.1:c.567_575del	XP_011537812.1:p.Leu190_Lys192del
NM_001320654.1:c.567_575del	NP_001307583.1:p.Leu190_Lys192del
NM_001320658.1:c.1251_1259del	NP_001307587.1:p.Leu418_Lys420del
XM_006717708.3:c.1311_1319del	XP_006717771.1:p.Leu438_Lys440del
XM_006717710.4:c.1311_1319del	XP_006717773.1:p.Leu438_Lys440del
XM_017015920.2:c.1311_1319del	XP_016871409.1:p.Leu438_Lys440del
XM_017015921.2:c.1308_1316del	XP_016871410.1:p.Leu437_Lys439del
XM_017015924.2:c.963_971del	XP_016871413.1:p.Leu322_Lys324del
XM_017015925.2:c.963_971del	XP_016871414.1:p.Leu322_Lys324del
XM_024447887.1:c.1041_1049del	XP_024303655.1:p.Leu348_Lys350del
XM_024447888.1:c.1044_1052del	XP_024303656.1:p.Leu349_Lys351del
XM_024447889.1:c.1041_1049del	XP_024303657.1:p.Leu348_Lys350del
XM_024447890.1:c.1044_1052del	XP_024303658.1:p.Leu349_Lys351del
XM_024447891.1:c.966_974del	XP_024303659.1:p.Leu323_Lys325del
XM_024447892.1:c.81_89del	XP_024303660.1:p.Leu28_Lys30del
NM_000141.5:c.1251_1259del MANE Select	NP_000132.3:p.Leu418_Lys420del
NM_001144917.2:c.939+4826_939+4834del	NP_001138389.1:n.939+4826_939+4834del
NM_001144918.2:c.906_914del	NP_001138390.1:p.Leu303_Lys305del
NM_001144919.2:c.987_995del	NP_001138391.1:p.Leu330_Lys332del
NM_001320658.2:c.1251_1259del	NP_001307587.1:p.Leu418_Lys420del
NR_073009.2:n.1687_1695del
NM_001144915.2:c.984_992del	NP_001138387.1:p.Leu329_Lys331del
NM_001144916.2:c.906_914del	NP_001138388.1:p.Leu303_Lys305del
NM_001320654.2:c.567_575del	NP_001307583.1:p.Leu190_Lys192del