Canonical Allele Identifier: CA378326979

Gene: FGFR2

Linked Data

• dbSNP Id: rs2134220686
• gnomAD v4: 10-121515140-T-A
• MyVariant Identifiers: chr10:g.123274654T>A (hg19) ; chr10:g.121515140T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515140T>A , CM000672.2:g.121515140T>A	GRCh38
NC_000010.10:g.123274654T>A , CM000672.1:g.123274654T>A	GRCh37
NC_000010.9:g.123264644T>A	NCBI36
NG_012449.1:g.88319A>T
NG_012449.2:g.88319A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1267A>T MANE Plus Clinical	ENSP00000410294.2:p.Ile423Phe
ENST00000351936.11:c.1264A>T	ENSP00000309878.10:p.Ile422Phe
ENST00000638709.2:c.94A>T	ENSP00000491912.2:p.Ile32Phe
ENST00000682296.1:n.612A>T
ENST00000682550.1:c.919A>T	ENSP00000507633.1:p.Ile307Phe
ENST00000682772.1:c.94A>T	ENSP00000506848.1:p.Ile32Phe
ENST00000683211.1:c.1264A>T	ENSP00000508257.1:p.Ile422Phe
ENST00000683250.1:c.404-11199A>T	ENSP00000506847.1:n.404-11199A>T
ENST00000683418.1:n.3611A>T
ENST00000684153.1:c.919A>T	ENSP00000506937.1:p.Ile307Phe
ENST00000358487.10:c.1264A>T MANE Select	ENSP00000351276.6:p.Ile422Phe
ENST00000336553.10:c.997A>T	ENSP00000337665.6:p.Ile333Phe
ENST00000346997.6:c.1264A>T	ENSP00000263451.5:p.Ile422Phe
ENST00000351936.10:c.1270A>T	ENSP00000309878.9:p.Ile424Phe
ENST00000356226.8:c.919A>T	ENSP00000348559.4:p.Ile307Phe
ENST00000357555.9:c.997A>T	ENSP00000350166.5:p.Ile333Phe
ENST00000358487.9:c.1264A>T	ENSP00000351276.5:p.Ile422Phe
ENST00000360144.7:c.1000A>T	ENSP00000353262.3:p.Ile334Phe
ENST00000369056.5:c.1267A>T	ENSP00000358052.1:p.Ile423Phe
ENST00000369058.7:c.1267A>T	ENSP00000358054.3:p.Ile423Phe
ENST00000369059.5:c.922A>T	ENSP00000358055.1:p.Ile308Phe
ENST00000369060.8:c.939+4839A>T	ENSP00000358056.4:n.939+4839A>T
ENST00000369061.8:c.928A>T	ENSP00000358057.4:p.Ile310Phe
ENST00000429361.5:c.40A>T	ENSP00000404219.1:p.Ile14Phe
ENST00000457416.6:c.1267A>T	ENSP00000410294.2:p.Ile423Phe
ENST00000478859.5:c.580A>T	ENSP00000474011.1:p.Ile194Phe
ENST00000604236.5:c.*311A>T	ENSP00000474109.1:n.*311A>T
ENST00000613048.4:c.997A>T	ENSP00000484154.1:p.Ile333Phe
NM_000141.4:c.1264A>T	NP_000132.3:p.Ile422Phe
NM_001144913.1:c.1267A>T	NP_001138385.1:p.Ile423Phe
NM_001144914.1:c.928A>T	NP_001138386.1:p.Ile310Phe
NM_001144915.1:c.997A>T	NP_001138387.1:p.Ile333Phe
NM_001144916.1:c.919A>T	NP_001138388.1:p.Ile307Phe
NM_001144917.1:c.939+4839A>T	NP_001138389.1:n.939+4839A>T
NM_001144918.1:c.919A>T	NP_001138390.1:p.Ile307Phe
NM_001144919.1:c.1000A>T	NP_001138391.1:p.Ile334Phe
NM_022970.3:c.1267A>T	NP_075259.4:p.Ile423Phe
NM_023029.2:c.997A>T	NP_075418.1:p.Ile333Phe
NR_073009.1:n.1714A>T
XM_006717708.2:c.1324A>T	XP_006717771.1:p.Ile442Phe
XM_006717709.2:c.1321A>T	XP_006717772.1:p.Ile441Phe
XM_006717710.2:c.1324A>T	XP_006717773.1:p.Ile442Phe
XM_006717711.2:c.1057A>T	XP_006717774.1:p.Ile353Phe
XM_006717712.2:c.979A>T	XP_006717775.1:p.Ile327Phe
XM_006717713.2:c.1321A>T	XP_006717776.1:p.Ile441Phe
XM_011539510.1:c.580A>T	XP_011537812.1:p.Ile194Phe
NM_001320654.1:c.580A>T	NP_001307583.1:p.Ile194Phe
NM_001320658.1:c.1264A>T	NP_001307587.1:p.Ile422Phe
XM_006717708.3:c.1324A>T	XP_006717771.1:p.Ile442Phe
XM_006717710.4:c.1324A>T	XP_006717773.1:p.Ile442Phe
XM_017015920.2:c.1324A>T	XP_016871409.1:p.Ile442Phe
XM_017015921.2:c.1321A>T	XP_016871410.1:p.Ile441Phe
XM_017015924.2:c.976A>T	XP_016871413.1:p.Ile326Phe
XM_017015925.2:c.976A>T	XP_016871414.1:p.Ile326Phe
XM_024447887.1:c.1054A>T	XP_024303655.1:p.Ile352Phe
XM_024447888.1:c.1057A>T	XP_024303656.1:p.Ile353Phe
XM_024447889.1:c.1054A>T	XP_024303657.1:p.Ile352Phe
XM_024447890.1:c.1057A>T	XP_024303658.1:p.Ile353Phe
XM_024447891.1:c.979A>T	XP_024303659.1:p.Ile327Phe
XM_024447892.1:c.94A>T	XP_024303660.1:p.Ile32Phe
NM_000141.5:c.1264A>T MANE Select	NP_000132.3:p.Ile422Phe
NM_001144917.2:c.939+4839A>T	NP_001138389.1:n.939+4839A>T
NM_001144918.2:c.919A>T	NP_001138390.1:p.Ile307Phe
NM_001144919.2:c.1000A>T	NP_001138391.1:p.Ile334Phe
NM_001320658.2:c.1264A>T	NP_001307587.1:p.Ile422Phe
NR_073009.2:n.1700A>T
NM_001144915.2:c.997A>T	NP_001138387.1:p.Ile333Phe
NM_001144916.2:c.919A>T	NP_001138388.1:p.Ile307Phe
NM_001320654.2:c.580A>T	NP_001307583.1:p.Ile194Phe