Canonical Allele Identifier: CA5720524

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121483767G>A , CM000672.2:g.121483767G>A	GRCh38
NC_000010.10:g.123243281G>A , CM000672.1:g.123243281G>A	GRCh37
NC_000010.9:g.123233271G>A	NCBI36
NG_012449.1:g.119692C>T
NG_012449.2:g.119692C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.2232C>T MANE Select	NP_000132.3:p.Pro744=
ENST00000358487.10:c.2232C>T MANE Select	ENSP00000351276.6:p.Pro744=
ENST00000457416.7:c.2235C>T MANE Plus Clinical	ENSP00000410294.2:p.Pro745=
NM_000141.4:c.2232C>T	NP_000132.3:p.Pro744=
NM_001144913.1:c.2235C>T	NP_001138385.1:p.Pro745=
NM_001144914.1:c.1896C>T	NP_001138386.1:p.Pro632=
NM_001144915.1:c.1965C>T	NP_001138387.1:p.Pro655=
NM_001144915.2:c.1965C>T	NP_001138387.1:p.Pro655=
NM_001144916.1:c.1887C>T	NP_001138388.1:p.Pro629=
NM_001144916.2:c.1887C>T	NP_001138388.1:p.Pro629=
NM_001144917.1:c.1884C>T	NP_001138389.1:p.Pro628=
NM_001144917.2:c.1884C>T	NP_001138389.1:p.Pro628=
NM_001144918.1:c.1881C>T	NP_001138390.1:p.Pro627=
NM_001144918.2:c.1881C>T	NP_001138390.1:p.Pro627=
NM_001144919.1:c.1968C>T	NP_001138391.1:p.Pro656=
NM_001144919.2:c.1968C>T	NP_001138391.1:p.Pro656=
NM_001320654.1:c.1548C>T	NP_001307583.1:p.Pro516=
NM_001320654.2:c.1548C>T	NP_001307583.1:p.Pro516=
NM_001320658.1:c.2226C>T	NP_001307587.1:p.Pro742=
NM_001320658.2:c.2226C>T	NP_001307587.1:p.Pro742=
NM_022970.3:c.2235C>T	NP_075259.4:p.Pro745=
NM_023029.2:c.1965C>T	NP_075418.1:p.Pro655=
NR_073009.1:n.2682C>T
NR_073009.2:n.2668C>T
ENST00000336553.10:c.1959C>T	ENSP00000337665.6:p.Pro653=
ENST00000346997.6:c.2226C>T	ENSP00000263451.5:p.Pro742=
ENST00000351936.10:c.2232C>T	ENSP00000309878.9:p.Pro744=
ENST00000351936.11:c.2226C>T	ENSP00000309878.10:p.Pro742=
ENST00000356226.8:c.1881C>T	ENSP00000348559.4:p.Pro627=
ENST00000357555.9:c.1965C>T	ENSP00000350166.5:p.Pro655=
ENST00000358487.9:c.2232C>T	ENSP00000351276.5:p.Pro744=
ENST00000360144.7:c.1968C>T	ENSP00000353262.3:p.Pro656=
ENST00000369056.5:c.2235C>T	ENSP00000358052.1:p.Pro745=
ENST00000369058.7:c.2235C>T	ENSP00000358054.3:p.Pro745=
ENST00000369059.5:c.1890C>T	ENSP00000358055.1:p.Pro630=
ENST00000369060.8:c.1884C>T	ENSP00000358056.4:p.Pro628=
ENST00000369061.8:c.1896C>T	ENSP00000358057.4:p.Pro632=
ENST00000429361.5:c.971+1628C>T	ENSP00000404219.1:n.971+1628C>T
ENST00000457416.6:c.2235C>T	ENSP00000410294.2:p.Pro745=
ENST00000478859.5:c.1548C>T	ENSP00000474011.1:p.Pro516=
ENST00000604236.5:c.*1279C>T	ENSP00000474109.1:n.*1279C>T
ENST00000613048.4:c.1965C>T	ENSP00000484154.1:p.Pro655=
ENST00000638709.1:c.127C>T
ENST00000638709.2:c.1056C>T	ENSP00000491912.2:p.Pro352=
ENST00000682296.1:n.1574C>T
ENST00000682550.1:c.1881C>T	ENSP00000507633.1:p.Pro627=
ENST00000682772.1:c.1056C>T	ENSP00000506848.1:p.Pro352=
ENST00000682904.1:n.1052C>T
ENST00000683029.1:n.2235C>T
ENST00000683211.1:c.2226C>T	ENSP00000508257.1:p.Pro742=
ENST00000683250.1:c.*2525C>T	ENSP00000506847.1:n.*2525C>T
ENST00000683418.1:n.4573C>T
ENST00000683885.1:n.175C>T
ENST00000684153.1:c.1881C>T	ENSP00000506937.1:p.Pro627=
ENST00000684516.1:n.3245C>T
XM_006717708.2:c.2286C>T	XP_006717771.1:p.Pro762=
XM_006717708.3:c.2286C>T	XP_006717771.1:p.Pro762=
XM_006717709.2:c.2283C>T	XP_006717772.1:p.Pro761=
XM_006717710.2:c.2292C>T	XP_006717773.1:p.Pro764=
XM_006717710.4:c.2292C>T	XP_006717773.1:p.Pro764=
XM_006717711.2:c.2025C>T	XP_006717774.1:p.Pro675=
XM_006717712.2:c.1947C>T	XP_006717775.1:p.Pro649=
XM_006717713.2:c.2289C>T	XP_006717776.1:p.Pro763=
XM_011539510.1:c.1548C>T	XP_011537812.1:p.Pro516=
XM_017015920.2:c.2286C>T	XP_016871409.1:p.Pro762=
XM_017015921.2:c.2283C>T	XP_016871410.1:p.Pro761=
XM_017015924.2:c.1944C>T	XP_016871413.1:p.Pro648=
XM_017015925.2:c.1938C>T	XP_016871414.1:p.Pro646=
XM_024447887.1:c.2022C>T	XP_024303655.1:p.Pro674=
XM_024447888.1:c.2019C>T	XP_024303656.1:p.Pro673=
XM_024447889.1:c.2016C>T	XP_024303657.1:p.Pro672=
XM_024447890.1:c.2025C>T	XP_024303658.1:p.Pro675=
XM_024447891.1:c.1947C>T	XP_024303659.1:p.Pro649=
XM_024447892.1:c.1062C>T	XP_024303660.1:p.Pro354=