Canonical Allele Identifier: CA378327057

Gene: FGFR2

Linked Data

• dbSNP Id: rs2134223075
• MyVariant Identifiers: chr10:g.123274689C>A (hg19) ; chr10:g.121515175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515175C>A , CM000672.2:g.121515175C>A	GRCh38
NC_000010.10:g.123274689C>A , CM000672.1:g.123274689C>A	GRCh37
NC_000010.9:g.123264679C>A	NCBI36
NG_012449.1:g.88284G>T
NG_012449.2:g.88284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1232G>T MANE Plus Clinical	ENSP00000410294.2:p.Ser411Ile
ENST00000351936.11:c.1229G>T	ENSP00000309878.10:p.Ser410Ile
ENST00000638709.2:c.59G>T	ENSP00000491912.2:p.Ser20Ile
ENST00000682296.1:n.577G>T
ENST00000682550.1:c.884G>T	ENSP00000507633.1:p.Ser295Ile
ENST00000682772.1:c.59G>T	ENSP00000506848.1:p.Ser20Ile
ENST00000683211.1:c.1229G>T	ENSP00000508257.1:p.Ser410Ile
ENST00000683250.1:c.404-11234G>T	ENSP00000506847.1:n.404-11234G>T
ENST00000683418.1:n.3576G>T
ENST00000684153.1:c.884G>T	ENSP00000506937.1:p.Ser295Ile
ENST00000358487.10:c.1229G>T MANE Select	ENSP00000351276.6:p.Ser410Ile
ENST00000336553.10:c.962G>T	ENSP00000337665.6:p.Ser321Ile
ENST00000346997.6:c.1229G>T	ENSP00000263451.5:p.Ser410Ile
ENST00000351936.10:c.1235G>T	ENSP00000309878.9:p.Ser412Ile
ENST00000356226.8:c.884G>T	ENSP00000348559.4:p.Ser295Ile
ENST00000357555.9:c.962G>T	ENSP00000350166.5:p.Ser321Ile
ENST00000358487.9:c.1229G>T	ENSP00000351276.5:p.Ser410Ile
ENST00000360144.7:c.965G>T	ENSP00000353262.3:p.Ser322Ile
ENST00000369056.5:c.1232G>T	ENSP00000358052.1:p.Ser411Ile
ENST00000369058.7:c.1232G>T	ENSP00000358054.3:p.Ser411Ile
ENST00000369059.5:c.887G>T	ENSP00000358055.1:p.Ser296Ile
ENST00000369060.8:c.939+4804G>T	ENSP00000358056.4:n.939+4804G>T
ENST00000369061.8:c.893G>T	ENSP00000358057.4:p.Ser298Ile
ENST00000429361.5:c.5G>T	ENSP00000404219.1:p.Ser2Ile
ENST00000457416.6:c.1232G>T	ENSP00000410294.2:p.Ser411Ile
ENST00000478859.5:c.545G>T	ENSP00000474011.1:p.Ser182Ile
ENST00000604236.5:c.*276G>T	ENSP00000474109.1:n.*276G>T
ENST00000613048.4:c.962G>T	ENSP00000484154.1:p.Ser321Ile
NM_000141.4:c.1229G>T	NP_000132.3:p.Ser410Ile
NM_001144913.1:c.1232G>T	NP_001138385.1:p.Ser411Ile
NM_001144914.1:c.893G>T	NP_001138386.1:p.Ser298Ile
NM_001144915.1:c.962G>T	NP_001138387.1:p.Ser321Ile
NM_001144916.1:c.884G>T	NP_001138388.1:p.Ser295Ile
NM_001144917.1:c.939+4804G>T	NP_001138389.1:n.939+4804G>T
NM_001144918.1:c.884G>T	NP_001138390.1:p.Ser295Ile
NM_001144919.1:c.965G>T	NP_001138391.1:p.Ser322Ile
NM_022970.3:c.1232G>T	NP_075259.4:p.Ser411Ile
NM_023029.2:c.962G>T	NP_075418.1:p.Ser321Ile
NR_073009.1:n.1679G>T
XM_006717708.2:c.1289G>T	XP_006717771.1:p.Ser430Ile
XM_006717709.2:c.1286G>T	XP_006717772.1:p.Ser429Ile
XM_006717710.2:c.1289G>T	XP_006717773.1:p.Ser430Ile
XM_006717711.2:c.1022G>T	XP_006717774.1:p.Ser341Ile
XM_006717712.2:c.944G>T	XP_006717775.1:p.Ser315Ile
XM_006717713.2:c.1286G>T	XP_006717776.1:p.Ser429Ile
XM_011539510.1:c.545G>T	XP_011537812.1:p.Ser182Ile
NM_001320654.1:c.545G>T	NP_001307583.1:p.Ser182Ile
NM_001320658.1:c.1229G>T	NP_001307587.1:p.Ser410Ile
XM_006717708.3:c.1289G>T	XP_006717771.1:p.Ser430Ile
XM_006717710.4:c.1289G>T	XP_006717773.1:p.Ser430Ile
XM_017015920.2:c.1289G>T	XP_016871409.1:p.Ser430Ile
XM_017015921.2:c.1286G>T	XP_016871410.1:p.Ser429Ile
XM_017015924.2:c.941G>T	XP_016871413.1:p.Ser314Ile
XM_017015925.2:c.941G>T	XP_016871414.1:p.Ser314Ile
XM_024447887.1:c.1019G>T	XP_024303655.1:p.Ser340Ile
XM_024447888.1:c.1022G>T	XP_024303656.1:p.Ser341Ile
XM_024447889.1:c.1019G>T	XP_024303657.1:p.Ser340Ile
XM_024447890.1:c.1022G>T	XP_024303658.1:p.Ser341Ile
XM_024447891.1:c.944G>T	XP_024303659.1:p.Ser315Ile
XM_024447892.1:c.59G>T	XP_024303660.1:p.Ser20Ile
NM_000141.5:c.1229G>T MANE Select	NP_000132.3:p.Ser410Ile
NM_001144917.2:c.939+4804G>T	NP_001138389.1:n.939+4804G>T
NM_001144918.2:c.884G>T	NP_001138390.1:p.Ser295Ile
NM_001144919.2:c.965G>T	NP_001138391.1:p.Ser322Ile
NM_001320658.2:c.1229G>T	NP_001307587.1:p.Ser410Ile
NR_073009.2:n.1665G>T
NM_001144915.2:c.962G>T	NP_001138387.1:p.Ser321Ile
NM_001144916.2:c.884G>T	NP_001138388.1:p.Ser295Ile
NM_001320654.2:c.545G>T	NP_001307583.1:p.Ser182Ile