Canonical Allele Identifier: CA378326937

Gene: FGFR2

Linked Data

• dbSNP Id: rs2134219424
• MyVariant Identifiers: chr10:g.123274633T>A (hg19) ; chr10:g.121515119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515119T>A , CM000672.2:g.121515119T>A	GRCh38
NC_000010.10:g.123274633T>A , CM000672.1:g.123274633T>A	GRCh37
NC_000010.9:g.123264623T>A	NCBI36
NG_012449.1:g.88340A>T
NG_012449.2:g.88340A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1288A>T MANE Plus Clinical	ENSP00000410294.2:p.Thr430Ser
ENST00000351936.11:c.1281+4A>T	ENSP00000309878.10:n.1281+4A>T
ENST00000638709.2:c.111+4A>T	ENSP00000491912.2:n.111+4A>T
ENST00000682296.1:n.629+4A>T
ENST00000682550.1:c.936+4A>T	ENSP00000507633.1:n.936+4A>T
ENST00000682772.1:c.111+4A>T	ENSP00000506848.1:n.111+4A>T
ENST00000683211.1:c.1281+4A>T	ENSP00000508257.1:n.1281+4A>T
ENST00000683250.1:c.404-11178A>T	ENSP00000506847.1:n.404-11178A>T
ENST00000683418.1:n.3628+4A>T
ENST00000684153.1:c.936+4A>T	ENSP00000506937.1:n.936+4A>T
ENST00000358487.10:c.1285A>T MANE Select	ENSP00000351276.6:p.Thr429Ser
ENST00000336553.10:c.1014+4A>T	ENSP00000337665.6:n.1014+4A>T
ENST00000346997.6:c.1281+4A>T	ENSP00000263451.5:n.1281+4A>T
ENST00000351936.10:c.1287+4A>T	ENSP00000309878.9:n.1287+4A>T
ENST00000356226.8:c.936+4A>T	ENSP00000348559.4:n.936+4A>T
ENST00000357555.9:c.1018A>T	ENSP00000350166.5:p.Thr340Ser
ENST00000358487.9:c.1285A>T	ENSP00000351276.5:p.Thr429Ser
ENST00000360144.7:c.1021A>T	ENSP00000353262.3:p.Thr341Ser
ENST00000369056.5:c.1288A>T	ENSP00000358052.1:p.Thr430Ser
ENST00000369058.7:c.1288A>T	ENSP00000358054.3:p.Thr430Ser
ENST00000369059.5:c.943A>T	ENSP00000358055.1:p.Thr315Ser
ENST00000369060.8:c.939+4860A>T	ENSP00000358056.4:n.939+4860A>T
ENST00000369061.8:c.949A>T	ENSP00000358057.4:p.Thr317Ser
ENST00000429361.5:c.61A>T	ENSP00000404219.1:p.Thr21Ser
ENST00000457416.6:c.1288A>T	ENSP00000410294.2:p.Thr430Ser
ENST00000478859.5:c.601A>T	ENSP00000474011.1:p.Thr201Ser
ENST00000604236.5:c.*332A>T	ENSP00000474109.1:n.*332A>T
ENST00000613048.4:c.1018A>T	ENSP00000484154.1:p.Thr340Ser
NM_000141.4:c.1285A>T	NP_000132.3:p.Thr429Ser
NM_001144913.1:c.1288A>T	NP_001138385.1:p.Thr430Ser
NM_001144914.1:c.949A>T	NP_001138386.1:p.Thr317Ser
NM_001144915.1:c.1018A>T	NP_001138387.1:p.Thr340Ser
NM_001144916.1:c.940A>T	NP_001138388.1:p.Thr314Ser
NM_001144917.1:c.939+4860A>T	NP_001138389.1:n.939+4860A>T
NM_001144918.1:c.936+4A>T	NP_001138390.1:n.936+4A>T
NM_001144919.1:c.1021A>T	NP_001138391.1:p.Thr341Ser
NM_022970.3:c.1288A>T	NP_075259.4:p.Thr430Ser
NM_023029.2:c.1018A>T	NP_075418.1:p.Thr340Ser
NR_073009.1:n.1735A>T
XM_006717708.2:c.1341+4A>T	XP_006717771.1:n.1341+4A>T
XM_006717709.2:c.1338+4A>T	XP_006717772.1:n.1338+4A>T
XM_006717710.2:c.1345A>T	XP_006717773.1:p.Thr449Ser
XM_006717711.2:c.1078A>T	XP_006717774.1:p.Thr360Ser
XM_006717712.2:c.1000A>T	XP_006717775.1:p.Thr334Ser
XM_006717713.2:c.1342A>T	XP_006717776.1:p.Thr448Ser
XM_011539510.1:c.601A>T	XP_011537812.1:p.Thr201Ser
NM_001320654.1:c.601A>T	NP_001307583.1:p.Thr201Ser
NM_001320658.1:c.1281+4A>T	NP_001307587.1:n.1281+4A>T
XM_006717708.3:c.1341+4A>T	XP_006717771.1:n.1341+4A>T
XM_006717710.4:c.1345A>T	XP_006717773.1:p.Thr449Ser
XM_017015920.2:c.1341+4A>T	XP_016871409.1:n.1341+4A>T
XM_017015921.2:c.1338+4A>T	XP_016871410.1:n.1338+4A>T
XM_017015924.2:c.997A>T	XP_016871413.1:p.Thr333Ser
XM_017015925.2:c.993+4A>T	XP_016871414.1:n.993+4A>T
XM_024447887.1:c.1075A>T	XP_024303655.1:p.Thr359Ser
XM_024447888.1:c.1074+4A>T	XP_024303656.1:n.1074+4A>T
XM_024447889.1:c.1071+4A>T	XP_024303657.1:n.1071+4A>T
XM_024447890.1:c.1078A>T	XP_024303658.1:p.Thr360Ser
XM_024447891.1:c.1000A>T	XP_024303659.1:p.Thr334Ser
XM_024447892.1:c.115A>T	XP_024303660.1:p.Thr39Ser
NM_000141.5:c.1285A>T MANE Select	NP_000132.3:p.Thr429Ser
NM_001144917.2:c.939+4860A>T	NP_001138389.1:n.939+4860A>T
NM_001144918.2:c.936+4A>T	NP_001138390.1:n.936+4A>T
NM_001144919.2:c.1021A>T	NP_001138391.1:p.Thr341Ser
NM_001320658.2:c.1281+4A>T	NP_001307587.1:n.1281+4A>T
NR_073009.2:n.1721A>T
NM_001144915.2:c.1018A>T	NP_001138387.1:p.Thr340Ser
NM_001144916.2:c.940A>T	NP_001138388.1:p.Thr314Ser
NM_001320654.2:c.601A>T	NP_001307583.1:p.Thr201Ser