Canonical Allele Identifier: CA378327064

Gene: FGFR2

Linked Data

• dbSNP Id: rs2134223194
• gnomAD v4: 10-121515177-G-T
• MyVariant Identifiers: chr10:g.123274691G>T (hg19) ; chr10:g.121515177G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515177G>T , CM000672.2:g.121515177G>T	GRCh38
NC_000010.10:g.123274691G>T , CM000672.1:g.123274691G>T	GRCh37
NC_000010.9:g.123264681G>T	NCBI36
NG_012449.1:g.88282C>A
NG_012449.2:g.88282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1230C>A MANE Plus Clinical	ENSP00000410294.2:p.Phe410Leu
ENST00000351936.11:c.1227C>A	ENSP00000309878.10:p.Phe409Leu
ENST00000638709.2:c.57C>A	ENSP00000491912.2:p.Phe19Leu
ENST00000682296.1:n.575C>A
ENST00000682550.1:c.882C>A	ENSP00000507633.1:p.Phe294Leu
ENST00000682772.1:c.57C>A	ENSP00000506848.1:p.Phe19Leu
ENST00000683211.1:c.1227C>A	ENSP00000508257.1:p.Phe409Leu
ENST00000683250.1:c.404-11236C>A	ENSP00000506847.1:n.404-11236C>A
ENST00000683418.1:n.3574C>A
ENST00000684153.1:c.882C>A	ENSP00000506937.1:p.Phe294Leu
ENST00000358487.10:c.1227C>A MANE Select	ENSP00000351276.6:p.Phe409Leu
ENST00000336553.10:c.960C>A	ENSP00000337665.6:p.Phe320Leu
ENST00000346997.6:c.1227C>A	ENSP00000263451.5:p.Phe409Leu
ENST00000351936.10:c.1233C>A	ENSP00000309878.9:p.Phe411Leu
ENST00000356226.8:c.882C>A	ENSP00000348559.4:p.Phe294Leu
ENST00000357555.9:c.960C>A	ENSP00000350166.5:p.Phe320Leu
ENST00000358487.9:c.1227C>A	ENSP00000351276.5:p.Phe409Leu
ENST00000360144.7:c.963C>A	ENSP00000353262.3:p.Phe321Leu
ENST00000369056.5:c.1230C>A	ENSP00000358052.1:p.Phe410Leu
ENST00000369058.7:c.1230C>A	ENSP00000358054.3:p.Phe410Leu
ENST00000369059.5:c.885C>A	ENSP00000358055.1:p.Phe295Leu
ENST00000369060.8:c.939+4802C>A	ENSP00000358056.4:n.939+4802C>A
ENST00000369061.8:c.891C>A	ENSP00000358057.4:p.Phe297Leu
ENST00000429361.5:c.3C>A	ENSP00000404219.1:p.Phe1Leu
ENST00000457416.6:c.1230C>A	ENSP00000410294.2:p.Phe410Leu
ENST00000478859.5:c.543C>A	ENSP00000474011.1:p.Phe181Leu
ENST00000604236.5:c.*274C>A	ENSP00000474109.1:n.*274C>A
ENST00000613048.4:c.960C>A	ENSP00000484154.1:p.Phe320Leu
NM_000141.4:c.1227C>A	NP_000132.3:p.Phe409Leu
NM_001144913.1:c.1230C>A	NP_001138385.1:p.Phe410Leu
NM_001144914.1:c.891C>A	NP_001138386.1:p.Phe297Leu
NM_001144915.1:c.960C>A	NP_001138387.1:p.Phe320Leu
NM_001144916.1:c.882C>A	NP_001138388.1:p.Phe294Leu
NM_001144917.1:c.939+4802C>A	NP_001138389.1:n.939+4802C>A
NM_001144918.1:c.882C>A	NP_001138390.1:p.Phe294Leu
NM_001144919.1:c.963C>A	NP_001138391.1:p.Phe321Leu
NM_022970.3:c.1230C>A	NP_075259.4:p.Phe410Leu
NM_023029.2:c.960C>A	NP_075418.1:p.Phe320Leu
NR_073009.1:n.1677C>A
XM_006717708.2:c.1287C>A	XP_006717771.1:p.Phe429Leu
XM_006717709.2:c.1284C>A	XP_006717772.1:p.Phe428Leu
XM_006717710.2:c.1287C>A	XP_006717773.1:p.Phe429Leu
XM_006717711.2:c.1020C>A	XP_006717774.1:p.Phe340Leu
XM_006717712.2:c.942C>A	XP_006717775.1:p.Phe314Leu
XM_006717713.2:c.1284C>A	XP_006717776.1:p.Phe428Leu
XM_011539510.1:c.543C>A	XP_011537812.1:p.Phe181Leu
NM_001320654.1:c.543C>A	NP_001307583.1:p.Phe181Leu
NM_001320658.1:c.1227C>A	NP_001307587.1:p.Phe409Leu
XM_006717708.3:c.1287C>A	XP_006717771.1:p.Phe429Leu
XM_006717710.4:c.1287C>A	XP_006717773.1:p.Phe429Leu
XM_017015920.2:c.1287C>A	XP_016871409.1:p.Phe429Leu
XM_017015921.2:c.1284C>A	XP_016871410.1:p.Phe428Leu
XM_017015924.2:c.939C>A	XP_016871413.1:p.Phe313Leu
XM_017015925.2:c.939C>A	XP_016871414.1:p.Phe313Leu
XM_024447887.1:c.1017C>A	XP_024303655.1:p.Phe339Leu
XM_024447888.1:c.1020C>A	XP_024303656.1:p.Phe340Leu
XM_024447889.1:c.1017C>A	XP_024303657.1:p.Phe339Leu
XM_024447890.1:c.1020C>A	XP_024303658.1:p.Phe340Leu
XM_024447891.1:c.942C>A	XP_024303659.1:p.Phe314Leu
XM_024447892.1:c.57C>A	XP_024303660.1:p.Phe19Leu
NM_000141.5:c.1227C>A MANE Select	NP_000132.3:p.Phe409Leu
NM_001144917.2:c.939+4802C>A	NP_001138389.1:n.939+4802C>A
NM_001144918.2:c.882C>A	NP_001138390.1:p.Phe294Leu
NM_001144919.2:c.963C>A	NP_001138391.1:p.Phe321Leu
NM_001320658.2:c.1227C>A	NP_001307587.1:p.Phe409Leu
NR_073009.2:n.1663C>A
NM_001144915.2:c.960C>A	NP_001138387.1:p.Phe320Leu
NM_001144916.2:c.882C>A	NP_001138388.1:p.Phe294Leu
NM_001320654.2:c.543C>A	NP_001307583.1:p.Phe181Leu