Canonical Allele Identifier: CA378327239

Gene: FGFR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515259C>G , CM000672.2:g.121515259C>G	GRCh38
NC_000010.10:g.123274773C>G , CM000672.1:g.123274773C>G	GRCh37
NC_000010.9:g.123264763C>G	NCBI36
NG_012449.1:g.88200G>C
NG_012449.2:g.88200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1148G>C MANE Plus Clinical	ENSP00000410294.2:p.Cys383Ser
ENST00000351936.11:c.1145G>C	ENSP00000309878.10:p.Cys382Ser
ENST00000638709.2:c.-26G>C	ENSP00000491912.2:n.-26G>C
ENST00000682296.1:n.493G>C
ENST00000682550.1:c.800G>C	ENSP00000507633.1:p.Cys267Ser
ENST00000682772.1:c.-26G>C	ENSP00000506848.1:n.-26G>C
ENST00000683211.1:c.1145G>C	ENSP00000508257.1:p.Cys382Ser
ENST00000683250.1:c.404-11318G>C	ENSP00000506847.1:n.404-11318G>C
ENST00000683418.1:n.3492G>C
ENST00000684153.1:c.800G>C	ENSP00000506937.1:p.Cys267Ser
ENST00000358487.10:c.1145G>C MANE Select	ENSP00000351276.6:p.Cys382Ser
ENST00000336553.10:c.878G>C	ENSP00000337665.6:p.Cys293Ser
ENST00000346997.6:c.1145G>C	ENSP00000263451.5:p.Cys382Ser
ENST00000351936.10:c.1151G>C	ENSP00000309878.9:p.Cys384Ser
ENST00000356226.8:c.800G>C	ENSP00000348559.4:p.Cys267Ser
ENST00000357555.9:c.878G>C	ENSP00000350166.5:p.Cys293Ser
ENST00000358487.9:c.1145G>C	ENSP00000351276.5:p.Cys382Ser
ENST00000360144.7:c.881G>C	ENSP00000353262.3:p.Cys294Ser
ENST00000369056.5:c.1148G>C	ENSP00000358052.1:p.Cys383Ser
ENST00000369058.7:c.1148G>C	ENSP00000358054.3:p.Cys383Ser
ENST00000369059.5:c.803G>C	ENSP00000358055.1:p.Cys268Ser
ENST00000369060.8:c.939+4720G>C	ENSP00000358056.4:n.939+4720G>C
ENST00000369061.8:c.809G>C	ENSP00000358057.4:p.Cys270Ser
ENST00000457416.6:c.1148G>C	ENSP00000410294.2:p.Cys383Ser
ENST00000463870.5:n.354G>C
ENST00000478859.5:c.461G>C	ENSP00000474011.1:p.Cys154Ser
ENST00000604236.5:c.*192G>C	ENSP00000474109.1:n.*192G>C
ENST00000613048.4:c.878G>C	ENSP00000484154.1:p.Cys293Ser
NM_000141.4:c.1145G>C	NP_000132.3:p.Cys382Ser
NM_001144913.1:c.1148G>C	NP_001138385.1:p.Cys383Ser
NM_001144914.1:c.809G>C	NP_001138386.1:p.Cys270Ser
NM_001144915.1:c.878G>C	NP_001138387.1:p.Cys293Ser
NM_001144916.1:c.800G>C	NP_001138388.1:p.Cys267Ser
NM_001144917.1:c.939+4720G>C	NP_001138389.1:n.939+4720G>C
NM_001144918.1:c.800G>C	NP_001138390.1:p.Cys267Ser
NM_001144919.1:c.881G>C	NP_001138391.1:p.Cys294Ser
NM_022970.3:c.1148G>C	NP_075259.4:p.Cys383Ser
NM_023029.2:c.878G>C	NP_075418.1:p.Cys293Ser
NR_073009.1:n.1595G>C
XM_006717708.2:c.1205G>C	XP_006717771.1:p.Cys402Ser
XM_006717709.2:c.1202G>C	XP_006717772.1:p.Cys401Ser
XM_006717710.2:c.1205G>C	XP_006717773.1:p.Cys402Ser
XM_006717711.2:c.938G>C	XP_006717774.1:p.Cys313Ser
XM_006717712.2:c.860G>C	XP_006717775.1:p.Cys287Ser
XM_006717713.2:c.1202G>C	XP_006717776.1:p.Cys401Ser
XM_011539510.1:c.461G>C	XP_011537812.1:p.Cys154Ser
NM_001320654.1:c.461G>C	NP_001307583.1:p.Cys154Ser
NM_001320658.1:c.1145G>C	NP_001307587.1:p.Cys382Ser
XM_006717708.3:c.1205G>C	XP_006717771.1:p.Cys402Ser
XM_006717710.4:c.1205G>C	XP_006717773.1:p.Cys402Ser
XM_017015920.2:c.1205G>C	XP_016871409.1:p.Cys402Ser
XM_017015921.2:c.1202G>C	XP_016871410.1:p.Cys401Ser
XM_017015924.2:c.857G>C	XP_016871413.1:p.Cys286Ser
XM_017015925.2:c.857G>C	XP_016871414.1:p.Cys286Ser
XM_024447887.1:c.935G>C	XP_024303655.1:p.Cys312Ser
XM_024447888.1:c.938G>C	XP_024303656.1:p.Cys313Ser
XM_024447889.1:c.935G>C	XP_024303657.1:p.Cys312Ser
XM_024447890.1:c.938G>C	XP_024303658.1:p.Cys313Ser
XM_024447891.1:c.860G>C	XP_024303659.1:p.Cys287Ser
XM_024447892.1:c.-26G>C	XP_024303660.1:n.-26G>C
NM_000141.5:c.1145G>C MANE Select	NP_000132.3:p.Cys382Ser
NM_001144917.2:c.939+4720G>C	NP_001138389.1:n.939+4720G>C
NM_001144918.2:c.800G>C	NP_001138390.1:p.Cys267Ser
NM_001144919.2:c.881G>C	NP_001138391.1:p.Cys294Ser
NM_001320658.2:c.1145G>C	NP_001307587.1:p.Cys382Ser
NR_073009.2:n.1581G>C
NM_001144915.2:c.878G>C	NP_001138387.1:p.Cys293Ser
NM_001144916.2:c.800G>C	NP_001138388.1:p.Cys267Ser
NM_001320654.2:c.461G>C	NP_001307583.1:p.Cys154Ser