Canonical Allele Identifier: CA933274043

Gene: FGFR2

Linked Data

• gnomAD v3: 10-121565176-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 10-121565176-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121565194_121565195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000672.2:g.121565194_121565195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000010.10:g.123324708_123324709insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000672.1:g.123324708_123324709insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000010.9:g.123314698_123314699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_012449.1:g.38282_38283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NG_012449.2:g.38282_38283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Plus Clinical	ENSP00000410294.2:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000351936.11:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000309878.10:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTT...
ENST00000682400.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000682550.1:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507633.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTT...
ENST00000683035.1:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507074.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000683211.1:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508257.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000683250.1:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000506847.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTT...
ENST00000683678.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000684153.1:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000506937.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTT...
ENST00000358487.10:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000351276.6:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000636922.1:c.177+460_177+461insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000490905.1:n.177+460_177+461insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000336553.10:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000337665.6:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000346997.6:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000263451.5:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000351936.10:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000309878.9:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000356226.8:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000348559.4:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTT...
ENST00000357555.9:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000350166.5:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000358487.9:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000351276.5:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000359354.6:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000352309.2:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000360144.7:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000353262.3:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000369056.5:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000358052.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000369058.7:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000358054.3:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000369059.5:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000358055.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTT...
ENST00000369060.8:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000358056.4:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000369061.8:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000358057.4:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000457416.6:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000410294.2:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000490349.5:n.637+261_637+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000491475.1:n.474+261_474+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000604236.5:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000474109.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTT...
ENST00000611527.1:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000484892.1:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000613048.4:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000484154.1:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000613324.4:c.323+261_323+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_000141.4:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000132.3:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001144913.1:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138385.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001144914.1:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138386.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001144915.1:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138387.1:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001144916.1:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138388.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTT...
NM_001144917.1:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138389.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001144918.1:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138390.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTT...
NM_001144919.1:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138391.1:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_022970.3:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_075259.4:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_023029.2:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_075418.1:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NR_073009.1:n.757-13718_757-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_006717708.2:c.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006717771.1:n.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006717709.2:c.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006717772.1:n.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006717710.2:c.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006717773.1:n.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006717711.2:c.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006717774.1:n.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006717712.2:c.167-13718_167-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006717775.1:n.167-13718_167-13717insTTTTTTTTTTTTTTTTTTTTTT...
XM_006717713.2:c.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006717776.1:n.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001320658.1:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001307587.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006717708.3:c.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006717771.1:n.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006717710.4:c.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006717773.1:n.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017015920.2:c.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016871409.1:n.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017015921.2:c.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016871410.1:n.433+261_433+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017015924.2:c.167-13718_167-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016871413.1:n.167-13718_167-13717insTTTTTTTTTTTTTTTTTTTTTT...
XM_017015925.2:c.167-13718_167-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016871414.1:n.167-13718_167-13717insTTTTTTTTTTTTTTTTTTTTTT...
XM_024447887.1:c.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024303655.1:n.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024447888.1:c.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024303656.1:n.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024447889.1:c.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024303657.1:n.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024447890.1:c.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024303658.1:n.167-598_167-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024447891.1:c.167-13718_167-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024303659.1:n.167-13718_167-13717insTTTTTTTTTTTTTTTTTTTTTT...
NM_000141.5:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000132.3:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001144917.2:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138389.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001144918.2:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138390.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTT...
NM_001144919.2:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138391.1:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001320658.2:c.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001307587.1:n.376+261_376+262insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NR_073009.2:n.743-13718_743-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001144915.2:c.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138387.1:n.110-598_110-597insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001144916.2:c.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001138388.1:n.110-13718_110-13717insTTTTTTTTTTTTTTTTTTTTTT...