Canonical Allele Identifier: CA378320514

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121496678G>A , CM000672.2:g.121496678G>A	GRCh38
NC_000010.10:g.123256192G>A , CM000672.1:g.123256192G>A	GRCh37
NC_000010.9:g.123246182G>A	NCBI36
NG_012449.1:g.106781C>T
NG_012449.2:g.106781C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.1717C>T MANE Select	NP_000132.3:p.Arg573Ter
ENST00000358487.10:c.1717C>T MANE Select	ENSP00000351276.6:p.Arg573Ter
ENST00000457416.7:c.1720C>T MANE Plus Clinical	ENSP00000410294.2:p.Arg574Ter
NM_000141.4:c.1717C>T	NP_000132.3:p.Arg573Ter
NM_001144913.1:c.1720C>T	NP_001138385.1:p.Arg574Ter
NM_001144914.1:c.1381C>T	NP_001138386.1:p.Arg461Ter
NM_001144915.1:c.1450C>T	NP_001138387.1:p.Arg484Ter
NM_001144915.2:c.1450C>T	NP_001138387.1:p.Arg484Ter
NM_001144916.1:c.1372C>T	NP_001138388.1:p.Arg458Ter
NM_001144916.2:c.1372C>T	NP_001138388.1:p.Arg458Ter
NM_001144917.1:c.1369C>T	NP_001138389.1:p.Arg457Ter
NM_001144917.2:c.1369C>T	NP_001138389.1:p.Arg457Ter
NM_001144918.1:c.1366C>T	NP_001138390.1:p.Arg456Ter
NM_001144918.2:c.1366C>T	NP_001138390.1:p.Arg456Ter
NM_001144919.1:c.1453C>T	NP_001138391.1:p.Arg485Ter
NM_001144919.2:c.1453C>T	NP_001138391.1:p.Arg485Ter
NM_001320654.1:c.1033C>T	NP_001307583.1:p.Arg345Ter
NM_001320654.2:c.1033C>T	NP_001307583.1:p.Arg345Ter
NM_001320658.1:c.1711C>T	NP_001307587.1:p.Arg571Ter
NM_001320658.2:c.1711C>T	NP_001307587.1:p.Arg571Ter
NM_022970.3:c.1720C>T	NP_075259.4:p.Arg574Ter
NM_023029.2:c.1450C>T	NP_075418.1:p.Arg484Ter
NR_073009.1:n.2167C>T
NR_073009.2:n.2153C>T
ENST00000336553.10:c.1444C>T	ENSP00000337665.6:p.Arg482Ter
ENST00000346997.6:c.1711C>T	ENSP00000263451.5:p.Arg571Ter
ENST00000351936.10:c.1717C>T	ENSP00000309878.9:p.Arg573Ter
ENST00000351936.11:c.1711C>T	ENSP00000309878.10:p.Arg571Ter
ENST00000356226.8:c.1366C>T	ENSP00000348559.4:p.Arg456Ter
ENST00000357555.9:c.1450C>T	ENSP00000350166.5:p.Arg484Ter
ENST00000358487.9:c.1717C>T	ENSP00000351276.5:p.Arg573Ter
ENST00000360144.7:c.1453C>T	ENSP00000353262.3:p.Arg485Ter
ENST00000369056.5:c.1720C>T	ENSP00000358052.1:p.Arg574Ter
ENST00000369058.7:c.1720C>T	ENSP00000358054.3:p.Arg574Ter
ENST00000369059.5:c.1375C>T	ENSP00000358055.1:p.Arg459Ter
ENST00000369060.8:c.1369C>T	ENSP00000358056.4:p.Arg457Ter
ENST00000369061.8:c.1381C>T	ENSP00000358057.4:p.Arg461Ter
ENST00000429361.5:c.493C>T	ENSP00000404219.1:p.Arg165Ter
ENST00000457416.6:c.1720C>T	ENSP00000410294.2:p.Arg574Ter
ENST00000478859.5:c.1033C>T	ENSP00000474011.1:p.Arg345Ter
ENST00000604236.5:c.*764C>T	ENSP00000474109.1:n.*764C>T
ENST00000613048.4:c.1450C>T	ENSP00000484154.1:p.Arg484Ter
ENST00000638709.2:c.541C>T	ENSP00000491912.2:p.Arg181Ter
ENST00000682296.1:n.1059C>T
ENST00000682550.1:c.1366C>T	ENSP00000507633.1:p.Arg456Ter
ENST00000682772.1:c.541C>T	ENSP00000506848.1:p.Arg181Ter
ENST00000682904.1:n.537C>T
ENST00000683029.1:n.129C>T
ENST00000683211.1:c.1711C>T	ENSP00000508257.1:p.Arg571Ter
ENST00000683250.1:c.*419C>T	ENSP00000506847.1:n.*419C>T
ENST00000683418.1:n.4058C>T
ENST00000684153.1:c.1366C>T	ENSP00000506937.1:p.Arg456Ter
ENST00000684516.1:n.2730C>T
XM_006717708.2:c.1771C>T	XP_006717771.1:p.Arg591Ter
XM_006717708.3:c.1771C>T	XP_006717771.1:p.Arg591Ter
XM_006717709.2:c.1768C>T	XP_006717772.1:p.Arg590Ter
XM_006717710.2:c.1777C>T	XP_006717773.1:p.Arg593Ter
XM_006717710.4:c.1777C>T	XP_006717773.1:p.Arg593Ter
XM_006717711.2:c.1510C>T	XP_006717774.1:p.Arg504Ter
XM_006717712.2:c.1432C>T	XP_006717775.1:p.Arg478Ter
XM_006717713.2:c.1774C>T	XP_006717776.1:p.Arg592Ter
XM_011539510.1:c.1033C>T	XP_011537812.1:p.Arg345Ter
XM_017015920.2:c.1771C>T	XP_016871409.1:p.Arg591Ter
XM_017015921.2:c.1768C>T	XP_016871410.1:p.Arg590Ter
XM_017015924.2:c.1429C>T	XP_016871413.1:p.Arg477Ter
XM_017015925.2:c.1423C>T	XP_016871414.1:p.Arg475Ter
XM_024447887.1:c.1507C>T	XP_024303655.1:p.Arg503Ter
XM_024447888.1:c.1504C>T	XP_024303656.1:p.Arg502Ter
XM_024447889.1:c.1501C>T	XP_024303657.1:p.Arg501Ter
XM_024447890.1:c.1510C>T	XP_024303658.1:p.Arg504Ter
XM_024447891.1:c.1432C>T	XP_024303659.1:p.Arg478Ter
XM_024447892.1:c.547C>T	XP_024303660.1:p.Arg183Ter