Canonical Allele Identifier: CA378314515

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488035C>G , CM000672.2:g.121488035C>G	GRCh38
NC_000010.10:g.123247549C>G , CM000672.1:g.123247549C>G	GRCh37
NC_000010.9:g.123237539C>G	NCBI36
NG_012449.1:g.115424G>C
NG_012449.2:g.115424G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.1942G>C MANE Select	NP_000132.3:p.Ala648Pro
ENST00000358487.10:c.1942G>C MANE Select	ENSP00000351276.6:p.Ala648Pro
ENST00000457416.7:c.1945G>C MANE Plus Clinical	ENSP00000410294.2:p.Ala649Pro
NM_000141.4:c.1942G>C	NP_000132.3:p.Ala648Pro
NM_001144913.1:c.1945G>C	NP_001138385.1:p.Ala649Pro
NM_001144914.1:c.1606G>C	NP_001138386.1:p.Ala536Pro
NM_001144915.1:c.1675G>C	NP_001138387.1:p.Ala559Pro
NM_001144915.2:c.1675G>C	NP_001138387.1:p.Ala559Pro
NM_001144916.1:c.1597G>C	NP_001138388.1:p.Ala533Pro
NM_001144916.2:c.1597G>C	NP_001138388.1:p.Ala533Pro
NM_001144917.1:c.1594G>C	NP_001138389.1:p.Ala532Pro
NM_001144917.2:c.1594G>C	NP_001138389.1:p.Ala532Pro
NM_001144918.1:c.1591G>C	NP_001138390.1:p.Ala531Pro
NM_001144918.2:c.1591G>C	NP_001138390.1:p.Ala531Pro
NM_001144919.1:c.1678G>C	NP_001138391.1:p.Ala560Pro
NM_001144919.2:c.1678G>C	NP_001138391.1:p.Ala560Pro
NM_001320654.1:c.1258G>C	NP_001307583.1:p.Ala420Pro
NM_001320654.2:c.1258G>C	NP_001307583.1:p.Ala420Pro
NM_001320658.1:c.1936G>C	NP_001307587.1:p.Ala646Pro
NM_001320658.2:c.1936G>C	NP_001307587.1:p.Ala646Pro
NM_022970.3:c.1945G>C	NP_075259.4:p.Ala649Pro
NM_023029.2:c.1675G>C	NP_075418.1:p.Ala559Pro
NR_073009.1:n.2392G>C
NR_073009.2:n.2378G>C
ENST00000336553.10:c.1669G>C	ENSP00000337665.6:p.Ala557Pro
ENST00000346997.6:c.1936G>C	ENSP00000263451.5:p.Ala646Pro
ENST00000351936.10:c.1942G>C	ENSP00000309878.9:p.Ala648Pro
ENST00000351936.11:c.1936G>C	ENSP00000309878.10:p.Ala646Pro
ENST00000356226.8:c.1591G>C	ENSP00000348559.4:p.Ala531Pro
ENST00000357555.9:c.1675G>C	ENSP00000350166.5:p.Ala559Pro
ENST00000358487.9:c.1942G>C	ENSP00000351276.5:p.Ala648Pro
ENST00000360144.7:c.1678G>C	ENSP00000353262.3:p.Ala560Pro
ENST00000369056.5:c.1945G>C	ENSP00000358052.1:p.Ala649Pro
ENST00000369058.7:c.1945G>C	ENSP00000358054.3:p.Ala649Pro
ENST00000369059.5:c.1600G>C	ENSP00000358055.1:p.Ala534Pro
ENST00000369060.8:c.1594G>C	ENSP00000358056.4:p.Ala532Pro
ENST00000369061.8:c.1606G>C	ENSP00000358057.4:p.Ala536Pro
ENST00000429361.5:c.718G>C	ENSP00000404219.1:p.Ala240Pro
ENST00000457416.6:c.1945G>C	ENSP00000410294.2:p.Ala649Pro
ENST00000478859.5:c.1258G>C	ENSP00000474011.1:p.Ala420Pro
ENST00000604236.5:c.*989G>C	ENSP00000474109.1:n.*989G>C
ENST00000613048.4:c.1675G>C	ENSP00000484154.1:p.Ala559Pro
ENST00000638709.2:c.766G>C	ENSP00000491912.2:p.Ala256Pro
ENST00000682296.1:n.1284G>C
ENST00000682550.1:c.1591G>C	ENSP00000507633.1:p.Ala531Pro
ENST00000682772.1:c.766G>C	ENSP00000506848.1:p.Ala256Pro
ENST00000682904.1:n.762G>C
ENST00000683029.1:n.354G>C
ENST00000683211.1:c.1936G>C	ENSP00000508257.1:p.Ala646Pro
ENST00000683250.1:c.*644G>C	ENSP00000506847.1:n.*644G>C
ENST00000683418.1:n.4283G>C
ENST00000684153.1:c.1591G>C	ENSP00000506937.1:p.Ala531Pro
ENST00000684516.1:n.2955G>C
XM_006717708.2:c.1996G>C	XP_006717771.1:p.Ala666Pro
XM_006717708.3:c.1996G>C	XP_006717771.1:p.Ala666Pro
XM_006717709.2:c.1993G>C	XP_006717772.1:p.Ala665Pro
XM_006717710.2:c.2002G>C	XP_006717773.1:p.Ala668Pro
XM_006717710.4:c.2002G>C	XP_006717773.1:p.Ala668Pro
XM_006717711.2:c.1735G>C	XP_006717774.1:p.Ala579Pro
XM_006717712.2:c.1657G>C	XP_006717775.1:p.Ala553Pro
XM_006717713.2:c.1999G>C	XP_006717776.1:p.Ala667Pro
XM_011539510.1:c.1258G>C	XP_011537812.1:p.Ala420Pro
XM_017015920.2:c.1996G>C	XP_016871409.1:p.Ala666Pro
XM_017015921.2:c.1993G>C	XP_016871410.1:p.Ala665Pro
XM_017015924.2:c.1654G>C	XP_016871413.1:p.Ala552Pro
XM_017015925.2:c.1648G>C	XP_016871414.1:p.Ala550Pro
XM_024447887.1:c.1732G>C	XP_024303655.1:p.Ala578Pro
XM_024447888.1:c.1729G>C	XP_024303656.1:p.Ala577Pro
XM_024447889.1:c.1726G>C	XP_024303657.1:p.Ala576Pro
XM_024447890.1:c.1735G>C	XP_024303658.1:p.Ala579Pro
XM_024447891.1:c.1657G>C	XP_024303659.1:p.Ala553Pro
XM_024447892.1:c.772G>C	XP_024303660.1:p.Ala258Pro