Canonical Allele Identifier: CA378321780

Gene: FGFR2

Linked Data

• dbSNP Id: rs2133977068
• MyVariant Identifiers: chr10:g.123258110G>A (hg19) ; chr10:g.121498596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498596G>A , CM000672.2:g.121498596G>A	GRCh38
NC_000010.10:g.123258110G>A , CM000672.1:g.123258110G>A	GRCh37
NC_000010.9:g.123248100G>A	NCBI36
NG_012449.1:g.104863C>T
NG_012449.2:g.104863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1574C>T MANE Plus Clinical	ENSP00000410294.2:p.Thr525Ile
ENST00000351936.11:c.1565C>T	ENSP00000309878.10:p.Thr522Ile
ENST00000638709.2:c.395C>T	ENSP00000491912.2:p.Thr132Ile
ENST00000682296.1:n.913C>T
ENST00000682550.1:c.1220C>T	ENSP00000507633.1:p.Thr407Ile
ENST00000682772.1:c.395C>T	ENSP00000506848.1:p.Thr132Ile
ENST00000682904.1:n.391C>T
ENST00000683211.1:c.1565C>T	ENSP00000508257.1:p.Thr522Ile
ENST00000683250.1:c.*273C>T	ENSP00000506847.1:n.*273C>T
ENST00000683418.1:n.3912C>T
ENST00000684153.1:c.1220C>T	ENSP00000506937.1:p.Thr407Ile
ENST00000684516.1:n.2584C>T
ENST00000358487.10:c.1571C>T MANE Select	ENSP00000351276.6:p.Thr524Ile
ENST00000336553.10:c.1298C>T	ENSP00000337665.6:p.Thr433Ile
ENST00000346997.6:c.1565C>T	ENSP00000263451.5:p.Thr522Ile
ENST00000351936.10:c.1571C>T	ENSP00000309878.9:p.Thr524Ile
ENST00000356226.8:c.1220C>T	ENSP00000348559.4:p.Thr407Ile
ENST00000357555.9:c.1304C>T	ENSP00000350166.5:p.Thr435Ile
ENST00000358487.9:c.1571C>T	ENSP00000351276.5:p.Thr524Ile
ENST00000360144.7:c.1307C>T	ENSP00000353262.3:p.Thr436Ile
ENST00000369056.5:c.1574C>T	ENSP00000358052.1:p.Thr525Ile
ENST00000369058.7:c.1574C>T	ENSP00000358054.3:p.Thr525Ile
ENST00000369059.5:c.1229C>T	ENSP00000358055.1:p.Thr410Ile
ENST00000369060.8:c.1223C>T	ENSP00000358056.4:p.Thr408Ile
ENST00000369061.8:c.1235C>T	ENSP00000358057.4:p.Thr412Ile
ENST00000429361.5:c.347C>T	ENSP00000404219.1:p.Thr116Ile
ENST00000457416.6:c.1574C>T	ENSP00000410294.2:p.Thr525Ile
ENST00000478859.5:c.887C>T	ENSP00000474011.1:p.Thr296Ile
ENST00000604236.5:c.*618C>T	ENSP00000474109.1:n.*618C>T
ENST00000613048.4:c.1304C>T	ENSP00000484154.1:p.Thr435Ile
NM_000141.4:c.1571C>T	NP_000132.3:p.Thr524Ile
NM_001144913.1:c.1574C>T	NP_001138385.1:p.Thr525Ile
NM_001144914.1:c.1235C>T	NP_001138386.1:p.Thr412Ile
NM_001144915.1:c.1304C>T	NP_001138387.1:p.Thr435Ile
NM_001144916.1:c.1226C>T	NP_001138388.1:p.Thr409Ile
NM_001144917.1:c.1223C>T	NP_001138389.1:p.Thr408Ile
NM_001144918.1:c.1220C>T	NP_001138390.1:p.Thr407Ile
NM_001144919.1:c.1307C>T	NP_001138391.1:p.Thr436Ile
NM_022970.3:c.1574C>T	NP_075259.4:p.Thr525Ile
NM_023029.2:c.1304C>T	NP_075418.1:p.Thr435Ile
NR_073009.1:n.2021C>T
XM_006717708.2:c.1625C>T	XP_006717771.1:p.Thr542Ile
XM_006717709.2:c.1622C>T	XP_006717772.1:p.Thr541Ile
XM_006717710.2:c.1631C>T	XP_006717773.1:p.Thr544Ile
XM_006717711.2:c.1364C>T	XP_006717774.1:p.Thr455Ile
XM_006717712.2:c.1286C>T	XP_006717775.1:p.Thr429Ile
XM_006717713.2:c.1628C>T	XP_006717776.1:p.Thr543Ile
XM_011539510.1:c.887C>T	XP_011537812.1:p.Thr296Ile
NM_001320654.1:c.887C>T	NP_001307583.1:p.Thr296Ile
NM_001320658.1:c.1565C>T	NP_001307587.1:p.Thr522Ile
XM_006717708.3:c.1625C>T	XP_006717771.1:p.Thr542Ile
XM_006717710.4:c.1631C>T	XP_006717773.1:p.Thr544Ile
XM_017015920.2:c.1625C>T	XP_016871409.1:p.Thr542Ile
XM_017015921.2:c.1622C>T	XP_016871410.1:p.Thr541Ile
XM_017015924.2:c.1283C>T	XP_016871413.1:p.Thr428Ile
XM_017015925.2:c.1277C>T	XP_016871414.1:p.Thr426Ile
XM_024447887.1:c.1361C>T	XP_024303655.1:p.Thr454Ile
XM_024447888.1:c.1358C>T	XP_024303656.1:p.Thr453Ile
XM_024447889.1:c.1355C>T	XP_024303657.1:p.Thr452Ile
XM_024447890.1:c.1364C>T	XP_024303658.1:p.Thr455Ile
XM_024447891.1:c.1286C>T	XP_024303659.1:p.Thr429Ile
XM_024447892.1:c.401C>T	XP_024303660.1:p.Thr134Ile
NM_000141.5:c.1571C>T MANE Select	NP_000132.3:p.Thr524Ile
NM_001144917.2:c.1223C>T	NP_001138389.1:p.Thr408Ile
NM_001144918.2:c.1220C>T	NP_001138390.1:p.Thr407Ile
NM_001144919.2:c.1307C>T	NP_001138391.1:p.Thr436Ile
NM_001320658.2:c.1565C>T	NP_001307587.1:p.Thr522Ile
NR_073009.2:n.2007C>T
NM_001144915.2:c.1304C>T	NP_001138387.1:p.Thr435Ile
NM_001144916.2:c.1226C>T	NP_001138388.1:p.Thr409Ile
NM_001320654.2:c.887C>T	NP_001307583.1:p.Thr296Ile