Canonical Allele Identifier: CA2611197487

Gene: FGFR2

Linked Data

• gnomAD v4: 10-121478864-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121478864C>A , CM000672.2:g.121478864C>A	GRCh38
NC_000010.10:g.123238378C>A , CM000672.1:g.123238378C>A	GRCh37
NC_000010.9:g.123228368C>A	NCBI36
NG_012449.1:g.124595G>T
NG_012449.2:g.124595G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.*993G>T MANE Plus Clinical	ENSP00000410294.2:n.*993G>T
ENST00000351936.11:c.*993G>T	ENSP00000309878.10:n.*993G>T
ENST00000638709.2:c.*993G>T	ENSP00000491912.2:n.*993G>T
ENST00000682296.1:n.2801G>T
ENST00000682550.1:c.*993G>T	ENSP00000507633.1:n.*993G>T
ENST00000682772.1:c.*993G>T	ENSP00000506848.1:n.*993G>T
ENST00000682904.1:n.2279G>T
ENST00000683029.1:n.3462G>T
ENST00000683211.1:c.*993G>T	ENSP00000508257.1:n.*993G>T
ENST00000683250.1:c.*3752G>T	ENSP00000506847.1:n.*3752G>T
ENST00000683418.1:n.5800G>T
ENST00000684153.1:c.*1187G>T	ENSP00000506937.1:n.*1187G>T
ENST00000684516.1:n.4472G>T
ENST00000358487.10:c.*993G>T MANE Select	ENSP00000351276.6:n.*993G>T
ENST00000638709.1:c.1446G>T
ENST00000357555.9:c.*717G>T	ENSP00000350166.5:n.*717G>T
ENST00000358487.9:c.*993G>T	ENSP00000351276.5:n.*993G>T
ENST00000369061.8:c.*993G>T	ENSP00000358057.4:n.*993G>T
ENST00000478859.5:c.*993G>T	ENSP00000474011.1:n.*993G>T
ENST00000613048.4:c.*993G>T	ENSP00000484154.1:n.*993G>T
NM_000141.4:c.*993G>T	NP_000132.3:n.*993G>T
NM_001144914.1:c.*993G>T	NP_001138386.1:n.*993G>T
NM_001144915.1:c.*717G>T	NP_001138387.1:n.*717G>T
NM_001144916.1:c.*993G>T	NP_001138388.1:n.*993G>T
NM_001144917.1:c.*993G>T	NP_001138389.1:n.*993G>T
NM_001144918.1:c.*993G>T	NP_001138390.1:n.*993G>T
NM_022970.3:c.*993G>T	NP_075259.4:n.*993G>T
NM_023029.2:c.*993G>T	NP_075418.1:n.*993G>T
NR_073009.1:n.3909G>T
XM_006717708.2:c.*993G>T	XP_006717771.1:n.*993G>T
XM_006717709.2:c.*993G>T	XP_006717772.1:n.*993G>T
XM_006717711.2:c.*993G>T	XP_006717774.1:n.*993G>T
XM_006717712.2:c.*993G>T	XP_006717775.1:n.*993G>T
XM_011539510.1:c.*993G>T	XP_011537812.1:n.*993G>T
NM_001320654.1:c.*993G>T	NP_001307583.1:n.*993G>T
NM_001320658.1:c.*993G>T	NP_001307587.1:n.*993G>T
XM_006717708.3:c.*993G>T	XP_006717771.1:n.*993G>T
XM_006717710.4:c.*1187G>T	XP_006717773.1:n.*1187G>T
XM_017015920.2:c.*1187G>T	XP_016871409.1:n.*1187G>T
XM_017015921.2:c.*1187G>T	XP_016871410.1:n.*1187G>T
XM_017015924.2:c.*993G>T	XP_016871413.1:n.*993G>T
XM_017015925.2:c.*1187G>T	XP_016871414.1:n.*1187G>T
XM_024447887.1:c.*993G>T	XP_024303655.1:n.*993G>T
XM_024447888.1:c.*993G>T	XP_024303656.1:n.*993G>T
XM_024447889.1:c.*993G>T	XP_024303657.1:n.*993G>T
XM_024447890.1:c.*993G>T	XP_024303658.1:n.*993G>T
XM_024447891.1:c.*993G>T	XP_024303659.1:n.*993G>T
XM_024447892.1:c.*993G>T	XP_024303660.1:n.*993G>T
NM_000141.5:c.*993G>T MANE Select	NP_000132.3:n.*993G>T
NM_001144917.2:c.*993G>T	NP_001138389.1:n.*993G>T
NM_001144918.2:c.*993G>T	NP_001138390.1:n.*993G>T
NM_001320658.2:c.*993G>T	NP_001307587.1:n.*993G>T
NR_073009.2:n.3895G>T
NM_001144915.2:c.*717G>T	NP_001138387.1:n.*717G>T
NM_001144916.2:c.*993G>T	NP_001138388.1:n.*993G>T
NM_001320654.2:c.*993G>T	NP_001307583.1:n.*993G>T