Canonical Allele Identifier: CA378321794

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123258114C>A (hg19) ; chr10:g.121498600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498600C>A , CM000672.2:g.121498600C>A	GRCh38
NC_000010.10:g.123258114C>A , CM000672.1:g.123258114C>A	GRCh37
NC_000010.9:g.123248104C>A	NCBI36
NG_012449.1:g.104859G>T
NG_012449.2:g.104859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1570G>T MANE Plus Clinical	ENSP00000410294.2:p.Ala524Ser
ENST00000351936.11:c.1561G>T	ENSP00000309878.10:p.Ala521Ser
ENST00000638709.2:c.391G>T	ENSP00000491912.2:p.Ala131Ser
ENST00000682296.1:n.909G>T
ENST00000682550.1:c.1216G>T	ENSP00000507633.1:p.Ala406Ser
ENST00000682772.1:c.391G>T	ENSP00000506848.1:p.Ala131Ser
ENST00000682904.1:n.387G>T
ENST00000683211.1:c.1561G>T	ENSP00000508257.1:p.Ala521Ser
ENST00000683250.1:c.*269G>T	ENSP00000506847.1:n.*269G>T
ENST00000683418.1:n.3908G>T
ENST00000684153.1:c.1216G>T	ENSP00000506937.1:p.Ala406Ser
ENST00000684516.1:n.2580G>T
ENST00000358487.10:c.1567G>T MANE Select	ENSP00000351276.6:p.Ala523Ser
ENST00000336553.10:c.1294G>T	ENSP00000337665.6:p.Ala432Ser
ENST00000346997.6:c.1561G>T	ENSP00000263451.5:p.Ala521Ser
ENST00000351936.10:c.1567G>T	ENSP00000309878.9:p.Ala523Ser
ENST00000356226.8:c.1216G>T	ENSP00000348559.4:p.Ala406Ser
ENST00000357555.9:c.1300G>T	ENSP00000350166.5:p.Ala434Ser
ENST00000358487.9:c.1567G>T	ENSP00000351276.5:p.Ala523Ser
ENST00000360144.7:c.1303G>T	ENSP00000353262.3:p.Ala435Ser
ENST00000369056.5:c.1570G>T	ENSP00000358052.1:p.Ala524Ser
ENST00000369058.7:c.1570G>T	ENSP00000358054.3:p.Ala524Ser
ENST00000369059.5:c.1225G>T	ENSP00000358055.1:p.Ala409Ser
ENST00000369060.8:c.1219G>T	ENSP00000358056.4:p.Ala407Ser
ENST00000369061.8:c.1231G>T	ENSP00000358057.4:p.Ala411Ser
ENST00000429361.5:c.343G>T	ENSP00000404219.1:p.Ala115Ser
ENST00000457416.6:c.1570G>T	ENSP00000410294.2:p.Ala524Ser
ENST00000478859.5:c.883G>T	ENSP00000474011.1:p.Ala295Ser
ENST00000604236.5:c.*614G>T	ENSP00000474109.1:n.*614G>T
ENST00000613048.4:c.1300G>T	ENSP00000484154.1:p.Ala434Ser
NM_000141.4:c.1567G>T	NP_000132.3:p.Ala523Ser
NM_001144913.1:c.1570G>T	NP_001138385.1:p.Ala524Ser
NM_001144914.1:c.1231G>T	NP_001138386.1:p.Ala411Ser
NM_001144915.1:c.1300G>T	NP_001138387.1:p.Ala434Ser
NM_001144916.1:c.1222G>T	NP_001138388.1:p.Ala408Ser
NM_001144917.1:c.1219G>T	NP_001138389.1:p.Ala407Ser
NM_001144918.1:c.1216G>T	NP_001138390.1:p.Ala406Ser
NM_001144919.1:c.1303G>T	NP_001138391.1:p.Ala435Ser
NM_022970.3:c.1570G>T	NP_075259.4:p.Ala524Ser
NM_023029.2:c.1300G>T	NP_075418.1:p.Ala434Ser
NR_073009.1:n.2017G>T
XM_006717708.2:c.1621G>T	XP_006717771.1:p.Ala541Ser
XM_006717709.2:c.1618G>T	XP_006717772.1:p.Ala540Ser
XM_006717710.2:c.1627G>T	XP_006717773.1:p.Ala543Ser
XM_006717711.2:c.1360G>T	XP_006717774.1:p.Ala454Ser
XM_006717712.2:c.1282G>T	XP_006717775.1:p.Ala428Ser
XM_006717713.2:c.1624G>T	XP_006717776.1:p.Ala542Ser
XM_011539510.1:c.883G>T	XP_011537812.1:p.Ala295Ser
NM_001320654.1:c.883G>T	NP_001307583.1:p.Ala295Ser
NM_001320658.1:c.1561G>T	NP_001307587.1:p.Ala521Ser
XM_006717708.3:c.1621G>T	XP_006717771.1:p.Ala541Ser
XM_006717710.4:c.1627G>T	XP_006717773.1:p.Ala543Ser
XM_017015920.2:c.1621G>T	XP_016871409.1:p.Ala541Ser
XM_017015921.2:c.1618G>T	XP_016871410.1:p.Ala540Ser
XM_017015924.2:c.1279G>T	XP_016871413.1:p.Ala427Ser
XM_017015925.2:c.1273G>T	XP_016871414.1:p.Ala425Ser
XM_024447887.1:c.1357G>T	XP_024303655.1:p.Ala453Ser
XM_024447888.1:c.1354G>T	XP_024303656.1:p.Ala452Ser
XM_024447889.1:c.1351G>T	XP_024303657.1:p.Ala451Ser
XM_024447890.1:c.1360G>T	XP_024303658.1:p.Ala454Ser
XM_024447891.1:c.1282G>T	XP_024303659.1:p.Ala428Ser
XM_024447892.1:c.397G>T	XP_024303660.1:p.Ala133Ser
NM_000141.5:c.1567G>T MANE Select	NP_000132.3:p.Ala523Ser
NM_001144917.2:c.1219G>T	NP_001138389.1:p.Ala407Ser
NM_001144918.2:c.1216G>T	NP_001138390.1:p.Ala406Ser
NM_001144919.2:c.1303G>T	NP_001138391.1:p.Ala435Ser
NM_001320658.2:c.1561G>T	NP_001307587.1:p.Ala521Ser
NR_073009.2:n.2003G>T
NM_001144915.2:c.1300G>T	NP_001138387.1:p.Ala434Ser
NM_001144916.2:c.1222G>T	NP_001138388.1:p.Ala408Ser
NM_001320654.2:c.883G>T	NP_001307583.1:p.Ala295Ser