Canonical Allele Identifier: CA378321335

Gene: FGFR2

Linked Data

• gnomAD v4: 10-121498503-G-A
• MyVariant Identifiers: chr10:g.123258017G>A (hg19) ; chr10:g.121498503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498503G>A , CM000672.2:g.121498503G>A	GRCh38
NC_000010.10:g.123258017G>A , CM000672.1:g.123258017G>A	GRCh37
NC_000010.9:g.123248007G>A	NCBI36
NG_012449.1:g.104956C>T
NG_012449.2:g.104956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1667C>T MANE Plus Clinical	ENSP00000410294.2:p.Thr556Ile
ENST00000351936.11:c.1658C>T	ENSP00000309878.10:p.Thr553Ile
ENST00000638709.2:c.488C>T	ENSP00000491912.2:p.Thr163Ile
ENST00000682296.1:n.1006C>T
ENST00000682550.1:c.1313C>T	ENSP00000507633.1:p.Thr438Ile
ENST00000682772.1:c.488C>T	ENSP00000506848.1:p.Thr163Ile
ENST00000682904.1:n.484C>T
ENST00000683211.1:c.1658C>T	ENSP00000508257.1:p.Thr553Ile
ENST00000683250.1:c.*366C>T	ENSP00000506847.1:n.*366C>T
ENST00000683418.1:n.4005C>T
ENST00000684153.1:c.1313C>T	ENSP00000506937.1:p.Thr438Ile
ENST00000684516.1:n.2677C>T
ENST00000358487.10:c.1664C>T MANE Select	ENSP00000351276.6:p.Thr555Ile
ENST00000336553.10:c.1391C>T	ENSP00000337665.6:p.Thr464Ile
ENST00000346997.6:c.1658C>T	ENSP00000263451.5:p.Thr553Ile
ENST00000351936.10:c.1664C>T	ENSP00000309878.9:p.Thr555Ile
ENST00000356226.8:c.1313C>T	ENSP00000348559.4:p.Thr438Ile
ENST00000357555.9:c.1397C>T	ENSP00000350166.5:p.Thr466Ile
ENST00000358487.9:c.1664C>T	ENSP00000351276.5:p.Thr555Ile
ENST00000360144.7:c.1400C>T	ENSP00000353262.3:p.Thr467Ile
ENST00000369056.5:c.1667C>T	ENSP00000358052.1:p.Thr556Ile
ENST00000369058.7:c.1667C>T	ENSP00000358054.3:p.Thr556Ile
ENST00000369059.5:c.1322C>T	ENSP00000358055.1:p.Thr441Ile
ENST00000369060.8:c.1316C>T	ENSP00000358056.4:p.Thr439Ile
ENST00000369061.8:c.1328C>T	ENSP00000358057.4:p.Thr443Ile
ENST00000429361.5:c.440C>T	ENSP00000404219.1:p.Thr147Ile
ENST00000457416.6:c.1667C>T	ENSP00000410294.2:p.Thr556Ile
ENST00000478859.5:c.980C>T	ENSP00000474011.1:p.Thr327Ile
ENST00000604236.5:c.*711C>T	ENSP00000474109.1:n.*711C>T
ENST00000613048.4:c.1397C>T	ENSP00000484154.1:p.Thr466Ile
NM_000141.4:c.1664C>T	NP_000132.3:p.Thr555Ile
NM_001144913.1:c.1667C>T	NP_001138385.1:p.Thr556Ile
NM_001144914.1:c.1328C>T	NP_001138386.1:p.Thr443Ile
NM_001144915.1:c.1397C>T	NP_001138387.1:p.Thr466Ile
NM_001144916.1:c.1319C>T	NP_001138388.1:p.Thr440Ile
NM_001144917.1:c.1316C>T	NP_001138389.1:p.Thr439Ile
NM_001144918.1:c.1313C>T	NP_001138390.1:p.Thr438Ile
NM_001144919.1:c.1400C>T	NP_001138391.1:p.Thr467Ile
NM_022970.3:c.1667C>T	NP_075259.4:p.Thr556Ile
NM_023029.2:c.1397C>T	NP_075418.1:p.Thr466Ile
NR_073009.1:n.2114C>T
XM_006717708.2:c.1718C>T	XP_006717771.1:p.Thr573Ile
XM_006717709.2:c.1715C>T	XP_006717772.1:p.Thr572Ile
XM_006717710.2:c.1724C>T	XP_006717773.1:p.Thr575Ile
XM_006717711.2:c.1457C>T	XP_006717774.1:p.Thr486Ile
XM_006717712.2:c.1379C>T	XP_006717775.1:p.Thr460Ile
XM_006717713.2:c.1721C>T	XP_006717776.1:p.Thr574Ile
XM_011539510.1:c.980C>T	XP_011537812.1:p.Thr327Ile
NM_001320654.1:c.980C>T	NP_001307583.1:p.Thr327Ile
NM_001320658.1:c.1658C>T	NP_001307587.1:p.Thr553Ile
XM_006717708.3:c.1718C>T	XP_006717771.1:p.Thr573Ile
XM_006717710.4:c.1724C>T	XP_006717773.1:p.Thr575Ile
XM_017015920.2:c.1718C>T	XP_016871409.1:p.Thr573Ile
XM_017015921.2:c.1715C>T	XP_016871410.1:p.Thr572Ile
XM_017015924.2:c.1376C>T	XP_016871413.1:p.Thr459Ile
XM_017015925.2:c.1370C>T	XP_016871414.1:p.Thr457Ile
XM_024447887.1:c.1454C>T	XP_024303655.1:p.Thr485Ile
XM_024447888.1:c.1451C>T	XP_024303656.1:p.Thr484Ile
XM_024447889.1:c.1448C>T	XP_024303657.1:p.Thr483Ile
XM_024447890.1:c.1457C>T	XP_024303658.1:p.Thr486Ile
XM_024447891.1:c.1379C>T	XP_024303659.1:p.Thr460Ile
XM_024447892.1:c.494C>T	XP_024303660.1:p.Thr165Ile
NM_000141.5:c.1664C>T MANE Select	NP_000132.3:p.Thr555Ile
NM_001144917.2:c.1316C>T	NP_001138389.1:p.Thr439Ile
NM_001144918.2:c.1313C>T	NP_001138390.1:p.Thr438Ile
NM_001144919.2:c.1400C>T	NP_001138391.1:p.Thr467Ile
NM_001320658.2:c.1658C>T	NP_001307587.1:p.Thr553Ile
NR_073009.2:n.2100C>T
NM_001144915.2:c.1397C>T	NP_001138387.1:p.Thr466Ile
NM_001144916.2:c.1319C>T	NP_001138388.1:p.Thr440Ile
NM_001320654.2:c.980C>T	NP_001307583.1:p.Thr327Ile