Canonical Allele Identifier: CA378321443

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123258038A>C (hg19) ; chr10:g.121498524A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498524A>C , CM000672.2:g.121498524A>C	GRCh38
NC_000010.10:g.123258038A>C , CM000672.1:g.123258038A>C	GRCh37
NC_000010.9:g.123248028A>C	NCBI36
NG_012449.1:g.104935T>G
NG_012449.2:g.104935T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1646T>G MANE Plus Clinical	ENSP00000410294.2:p.Ile549Arg
ENST00000351936.11:c.1637T>G	ENSP00000309878.10:p.Ile546Arg
ENST00000638709.2:c.467T>G	ENSP00000491912.2:p.Ile156Arg
ENST00000682296.1:n.985T>G
ENST00000682550.1:c.1292T>G	ENSP00000507633.1:p.Ile431Arg
ENST00000682772.1:c.467T>G	ENSP00000506848.1:p.Ile156Arg
ENST00000682904.1:n.463T>G
ENST00000683211.1:c.1637T>G	ENSP00000508257.1:p.Ile546Arg
ENST00000683250.1:c.*345T>G	ENSP00000506847.1:n.*345T>G
ENST00000683418.1:n.3984T>G
ENST00000684153.1:c.1292T>G	ENSP00000506937.1:p.Ile431Arg
ENST00000684516.1:n.2656T>G
ENST00000358487.10:c.1643T>G MANE Select	ENSP00000351276.6:p.Ile548Arg
ENST00000336553.10:c.1370T>G	ENSP00000337665.6:p.Ile457Arg
ENST00000346997.6:c.1637T>G	ENSP00000263451.5:p.Ile546Arg
ENST00000351936.10:c.1643T>G	ENSP00000309878.9:p.Ile548Arg
ENST00000356226.8:c.1292T>G	ENSP00000348559.4:p.Ile431Arg
ENST00000357555.9:c.1376T>G	ENSP00000350166.5:p.Ile459Arg
ENST00000358487.9:c.1643T>G	ENSP00000351276.5:p.Ile548Arg
ENST00000360144.7:c.1379T>G	ENSP00000353262.3:p.Ile460Arg
ENST00000369056.5:c.1646T>G	ENSP00000358052.1:p.Ile549Arg
ENST00000369058.7:c.1646T>G	ENSP00000358054.3:p.Ile549Arg
ENST00000369059.5:c.1301T>G	ENSP00000358055.1:p.Ile434Arg
ENST00000369060.8:c.1295T>G	ENSP00000358056.4:p.Ile432Arg
ENST00000369061.8:c.1307T>G	ENSP00000358057.4:p.Ile436Arg
ENST00000429361.5:c.419T>G	ENSP00000404219.1:p.Ile140Arg
ENST00000457416.6:c.1646T>G	ENSP00000410294.2:p.Ile549Arg
ENST00000478859.5:c.959T>G	ENSP00000474011.1:p.Ile320Arg
ENST00000604236.5:c.*690T>G	ENSP00000474109.1:n.*690T>G
ENST00000613048.4:c.1376T>G	ENSP00000484154.1:p.Ile459Arg
NM_000141.4:c.1643T>G	NP_000132.3:p.Ile548Arg
NM_001144913.1:c.1646T>G	NP_001138385.1:p.Ile549Arg
NM_001144914.1:c.1307T>G	NP_001138386.1:p.Ile436Arg
NM_001144915.1:c.1376T>G	NP_001138387.1:p.Ile459Arg
NM_001144916.1:c.1298T>G	NP_001138388.1:p.Ile433Arg
NM_001144917.1:c.1295T>G	NP_001138389.1:p.Ile432Arg
NM_001144918.1:c.1292T>G	NP_001138390.1:p.Ile431Arg
NM_001144919.1:c.1379T>G	NP_001138391.1:p.Ile460Arg
NM_022970.3:c.1646T>G	NP_075259.4:p.Ile549Arg
NM_023029.2:c.1376T>G	NP_075418.1:p.Ile459Arg
NR_073009.1:n.2093T>G
XM_006717708.2:c.1697T>G	XP_006717771.1:p.Ile566Arg
XM_006717709.2:c.1694T>G	XP_006717772.1:p.Ile565Arg
XM_006717710.2:c.1703T>G	XP_006717773.1:p.Ile568Arg
XM_006717711.2:c.1436T>G	XP_006717774.1:p.Ile479Arg
XM_006717712.2:c.1358T>G	XP_006717775.1:p.Ile453Arg
XM_006717713.2:c.1700T>G	XP_006717776.1:p.Ile567Arg
XM_011539510.1:c.959T>G	XP_011537812.1:p.Ile320Arg
NM_001320654.1:c.959T>G	NP_001307583.1:p.Ile320Arg
NM_001320658.1:c.1637T>G	NP_001307587.1:p.Ile546Arg
XM_006717708.3:c.1697T>G	XP_006717771.1:p.Ile566Arg
XM_006717710.4:c.1703T>G	XP_006717773.1:p.Ile568Arg
XM_017015920.2:c.1697T>G	XP_016871409.1:p.Ile566Arg
XM_017015921.2:c.1694T>G	XP_016871410.1:p.Ile565Arg
XM_017015924.2:c.1355T>G	XP_016871413.1:p.Ile452Arg
XM_017015925.2:c.1349T>G	XP_016871414.1:p.Ile450Arg
XM_024447887.1:c.1433T>G	XP_024303655.1:p.Ile478Arg
XM_024447888.1:c.1430T>G	XP_024303656.1:p.Ile477Arg
XM_024447889.1:c.1427T>G	XP_024303657.1:p.Ile476Arg
XM_024447890.1:c.1436T>G	XP_024303658.1:p.Ile479Arg
XM_024447891.1:c.1358T>G	XP_024303659.1:p.Ile453Arg
XM_024447892.1:c.473T>G	XP_024303660.1:p.Ile158Arg
NM_000141.5:c.1643T>G MANE Select	NP_000132.3:p.Ile548Arg
NM_001144917.2:c.1295T>G	NP_001138389.1:p.Ile432Arg
NM_001144918.2:c.1292T>G	NP_001138390.1:p.Ile431Arg
NM_001144919.2:c.1379T>G	NP_001138391.1:p.Ile460Arg
NM_001320658.2:c.1637T>G	NP_001307587.1:p.Ile546Arg
NR_073009.2:n.2079T>G
NM_001144915.2:c.1376T>G	NP_001138387.1:p.Ile459Arg
NM_001144916.2:c.1298T>G	NP_001138388.1:p.Ile433Arg
NM_001320654.2:c.959T>G	NP_001307583.1:p.Ile320Arg