Canonical Allele Identifier: CA378321761

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123258106C>A (hg19) ; chr10:g.121498592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498592C>A , CM000672.2:g.121498592C>A	GRCh38
NC_000010.10:g.123258106C>A , CM000672.1:g.123258106C>A	GRCh37
NC_000010.9:g.123248096C>A	NCBI36
NG_012449.1:g.104867G>T
NG_012449.2:g.104867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1578G>T MANE Plus Clinical	ENSP00000410294.2:p.Glu526Asp
ENST00000351936.11:c.1569G>T	ENSP00000309878.10:p.Glu523Asp
ENST00000638709.2:c.399G>T	ENSP00000491912.2:p.Glu133Asp
ENST00000682296.1:n.917G>T
ENST00000682550.1:c.1224G>T	ENSP00000507633.1:p.Glu408Asp
ENST00000682772.1:c.399G>T	ENSP00000506848.1:p.Glu133Asp
ENST00000682904.1:n.395G>T
ENST00000683211.1:c.1569G>T	ENSP00000508257.1:p.Glu523Asp
ENST00000683250.1:c.*277G>T	ENSP00000506847.1:n.*277G>T
ENST00000683418.1:n.3916G>T
ENST00000684153.1:c.1224G>T	ENSP00000506937.1:p.Glu408Asp
ENST00000684516.1:n.2588G>T
ENST00000358487.10:c.1575G>T MANE Select	ENSP00000351276.6:p.Glu525Asp
ENST00000336553.10:c.1302G>T	ENSP00000337665.6:p.Glu434Asp
ENST00000346997.6:c.1569G>T	ENSP00000263451.5:p.Glu523Asp
ENST00000351936.10:c.1575G>T	ENSP00000309878.9:p.Glu525Asp
ENST00000356226.8:c.1224G>T	ENSP00000348559.4:p.Glu408Asp
ENST00000357555.9:c.1308G>T	ENSP00000350166.5:p.Glu436Asp
ENST00000358487.9:c.1575G>T	ENSP00000351276.5:p.Glu525Asp
ENST00000360144.7:c.1311G>T	ENSP00000353262.3:p.Glu437Asp
ENST00000369056.5:c.1578G>T	ENSP00000358052.1:p.Glu526Asp
ENST00000369058.7:c.1578G>T	ENSP00000358054.3:p.Glu526Asp
ENST00000369059.5:c.1233G>T	ENSP00000358055.1:p.Glu411Asp
ENST00000369060.8:c.1227G>T	ENSP00000358056.4:p.Glu409Asp
ENST00000369061.8:c.1239G>T	ENSP00000358057.4:p.Glu413Asp
ENST00000429361.5:c.351G>T	ENSP00000404219.1:p.Glu117Asp
ENST00000457416.6:c.1578G>T	ENSP00000410294.2:p.Glu526Asp
ENST00000478859.5:c.891G>T	ENSP00000474011.1:p.Glu297Asp
ENST00000604236.5:c.*622G>T	ENSP00000474109.1:n.*622G>T
ENST00000613048.4:c.1308G>T	ENSP00000484154.1:p.Glu436Asp
NM_000141.4:c.1575G>T	NP_000132.3:p.Glu525Asp
NM_001144913.1:c.1578G>T	NP_001138385.1:p.Glu526Asp
NM_001144914.1:c.1239G>T	NP_001138386.1:p.Glu413Asp
NM_001144915.1:c.1308G>T	NP_001138387.1:p.Glu436Asp
NM_001144916.1:c.1230G>T	NP_001138388.1:p.Glu410Asp
NM_001144917.1:c.1227G>T	NP_001138389.1:p.Glu409Asp
NM_001144918.1:c.1224G>T	NP_001138390.1:p.Glu408Asp
NM_001144919.1:c.1311G>T	NP_001138391.1:p.Glu437Asp
NM_022970.3:c.1578G>T	NP_075259.4:p.Glu526Asp
NM_023029.2:c.1308G>T	NP_075418.1:p.Glu436Asp
NR_073009.1:n.2025G>T
XM_006717708.2:c.1629G>T	XP_006717771.1:p.Glu543Asp
XM_006717709.2:c.1626G>T	XP_006717772.1:p.Glu542Asp
XM_006717710.2:c.1635G>T	XP_006717773.1:p.Glu545Asp
XM_006717711.2:c.1368G>T	XP_006717774.1:p.Glu456Asp
XM_006717712.2:c.1290G>T	XP_006717775.1:p.Glu430Asp
XM_006717713.2:c.1632G>T	XP_006717776.1:p.Glu544Asp
XM_011539510.1:c.891G>T	XP_011537812.1:p.Glu297Asp
NM_001320654.1:c.891G>T	NP_001307583.1:p.Glu297Asp
NM_001320658.1:c.1569G>T	NP_001307587.1:p.Glu523Asp
XM_006717708.3:c.1629G>T	XP_006717771.1:p.Glu543Asp
XM_006717710.4:c.1635G>T	XP_006717773.1:p.Glu545Asp
XM_017015920.2:c.1629G>T	XP_016871409.1:p.Glu543Asp
XM_017015921.2:c.1626G>T	XP_016871410.1:p.Glu542Asp
XM_017015924.2:c.1287G>T	XP_016871413.1:p.Glu429Asp
XM_017015925.2:c.1281G>T	XP_016871414.1:p.Glu427Asp
XM_024447887.1:c.1365G>T	XP_024303655.1:p.Glu455Asp
XM_024447888.1:c.1362G>T	XP_024303656.1:p.Glu454Asp
XM_024447889.1:c.1359G>T	XP_024303657.1:p.Glu453Asp
XM_024447890.1:c.1368G>T	XP_024303658.1:p.Glu456Asp
XM_024447891.1:c.1290G>T	XP_024303659.1:p.Glu430Asp
XM_024447892.1:c.405G>T	XP_024303660.1:p.Glu135Asp
NM_000141.5:c.1575G>T MANE Select	NP_000132.3:p.Glu525Asp
NM_001144917.2:c.1227G>T	NP_001138389.1:p.Glu409Asp
NM_001144918.2:c.1224G>T	NP_001138390.1:p.Glu408Asp
NM_001144919.2:c.1311G>T	NP_001138391.1:p.Glu437Asp
NM_001320658.2:c.1569G>T	NP_001307587.1:p.Glu523Asp
NR_073009.2:n.2011G>T
NM_001144915.2:c.1308G>T	NP_001138387.1:p.Glu436Asp
NM_001144916.2:c.1230G>T	NP_001138388.1:p.Glu410Asp
NM_001320654.2:c.891G>T	NP_001307583.1:p.Glu297Asp