Canonical Allele Identifier: CA471649450

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123258085C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498571C>A , CM000672.2:g.121498571C>A	GRCh38
NC_000010.10:g.123258085C>A , CM000672.1:g.123258085C>A	GRCh37
NC_000010.9:g.123248075C>A	NCBI36
NG_012449.1:g.104888G>T
NG_012449.2:g.104888G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1599G>T MANE Plus Clinical	ENSP00000410294.2:p.Val533=
ENST00000351936.11:c.1590G>T	ENSP00000309878.10:p.Val530=
ENST00000638709.2:c.420G>T	ENSP00000491912.2:p.Val140=
ENST00000682296.1:n.938G>T
ENST00000682550.1:c.1245G>T	ENSP00000507633.1:p.Val415=
ENST00000682772.1:c.420G>T	ENSP00000506848.1:p.Val140=
ENST00000682904.1:n.416G>T
ENST00000683211.1:c.1590G>T	ENSP00000508257.1:p.Val530=
ENST00000683250.1:c.*298G>T	ENSP00000506847.1:n.*298G>T
ENST00000683418.1:n.3937G>T
ENST00000684153.1:c.1245G>T	ENSP00000506937.1:p.Val415=
ENST00000684516.1:n.2609G>T
ENST00000358487.10:c.1596G>T MANE Select	ENSP00000351276.6:p.Val532=
ENST00000336553.10:c.1323G>T	ENSP00000337665.6:p.Val441=
ENST00000346997.6:c.1590G>T	ENSP00000263451.5:p.Val530=
ENST00000351936.10:c.1596G>T	ENSP00000309878.9:p.Val532=
ENST00000356226.8:c.1245G>T	ENSP00000348559.4:p.Val415=
ENST00000357555.9:c.1329G>T	ENSP00000350166.5:p.Val443=
ENST00000358487.9:c.1596G>T	ENSP00000351276.5:p.Val532=
ENST00000360144.7:c.1332G>T	ENSP00000353262.3:p.Val444=
ENST00000369056.5:c.1599G>T	ENSP00000358052.1:p.Val533=
ENST00000369058.7:c.1599G>T	ENSP00000358054.3:p.Val533=
ENST00000369059.5:c.1254G>T	ENSP00000358055.1:p.Val418=
ENST00000369060.8:c.1248G>T	ENSP00000358056.4:p.Val416=
ENST00000369061.8:c.1260G>T	ENSP00000358057.4:p.Val420=
ENST00000429361.5:c.372G>T	ENSP00000404219.1:p.Val124=
ENST00000457416.6:c.1599G>T	ENSP00000410294.2:p.Val533=
ENST00000478859.5:c.912G>T	ENSP00000474011.1:p.Val304=
ENST00000604236.5:c.*643G>T	ENSP00000474109.1:n.*643G>T
ENST00000613048.4:c.1329G>T	ENSP00000484154.1:p.Val443=
NM_000141.4:c.1596G>T	NP_000132.3:p.Val532=
NM_001144913.1:c.1599G>T	NP_001138385.1:p.Val533=
NM_001144914.1:c.1260G>T	NP_001138386.1:p.Val420=
NM_001144915.1:c.1329G>T	NP_001138387.1:p.Val443=
NM_001144916.1:c.1251G>T	NP_001138388.1:p.Val417=
NM_001144917.1:c.1248G>T	NP_001138389.1:p.Val416=
NM_001144918.1:c.1245G>T	NP_001138390.1:p.Val415=
NM_001144919.1:c.1332G>T	NP_001138391.1:p.Val444=
NM_022970.3:c.1599G>T	NP_075259.4:p.Val533=
NM_023029.2:c.1329G>T	NP_075418.1:p.Val443=
NR_073009.1:n.2046G>T
XM_006717708.2:c.1650G>T	XP_006717771.1:p.Val550=
XM_006717709.2:c.1647G>T	XP_006717772.1:p.Val549=
XM_006717710.2:c.1656G>T	XP_006717773.1:p.Val552=
XM_006717711.2:c.1389G>T	XP_006717774.1:p.Val463=
XM_006717712.2:c.1311G>T	XP_006717775.1:p.Val437=
XM_006717713.2:c.1653G>T	XP_006717776.1:p.Val551=
XM_011539510.1:c.912G>T	XP_011537812.1:p.Val304=
NM_001320654.1:c.912G>T	NP_001307583.1:p.Val304=
NM_001320658.1:c.1590G>T	NP_001307587.1:p.Val530=
XM_006717708.3:c.1650G>T	XP_006717771.1:p.Val550=
XM_006717710.4:c.1656G>T	XP_006717773.1:p.Val552=
XM_017015920.2:c.1650G>T	XP_016871409.1:p.Val550=
XM_017015921.2:c.1647G>T	XP_016871410.1:p.Val549=
XM_017015924.2:c.1308G>T	XP_016871413.1:p.Val436=
XM_017015925.2:c.1302G>T	XP_016871414.1:p.Val434=
XM_024447887.1:c.1386G>T	XP_024303655.1:p.Val462=
XM_024447888.1:c.1383G>T	XP_024303656.1:p.Val461=
XM_024447889.1:c.1380G>T	XP_024303657.1:p.Val460=
XM_024447890.1:c.1389G>T	XP_024303658.1:p.Val463=
XM_024447891.1:c.1311G>T	XP_024303659.1:p.Val437=
XM_024447892.1:c.426G>T	XP_024303660.1:p.Val142=
NM_000141.5:c.1596G>T MANE Select	NP_000132.3:p.Val532=
NM_001144917.2:c.1248G>T	NP_001138389.1:p.Val416=
NM_001144918.2:c.1245G>T	NP_001138390.1:p.Val415=
NM_001144919.2:c.1332G>T	NP_001138391.1:p.Val444=
NM_001320658.2:c.1590G>T	NP_001307587.1:p.Val530=
NR_073009.2:n.2032G>T
NM_001144915.2:c.1329G>T	NP_001138387.1:p.Val443=
NM_001144916.2:c.1251G>T	NP_001138388.1:p.Val417=
NM_001320654.2:c.912G>T	NP_001307583.1:p.Val304=