Canonical Allele Identifier: CA378314998
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2133839085

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488094G>A , CM000672.2:g.121488094G>A GRCh38
NC_000010.10:g.123247608G>A , CM000672.1:g.123247608G>A GRCh37
NC_000010.9:g.123237598G>A NCBI36
NG_012449.1:g.115365C>T
NG_012449.2:g.115365C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1886C>T MANE Plus Clinical ENSP00000410294.2:p.Ala629Val
ENST00000351936.11:c.1877C>T ENSP00000309878.10:p.Ala626Val
ENST00000638709.2:c.707C>T ENSP00000491912.2:p.Ala236Val
ENST00000682296.1:n.1225C>T
ENST00000682550.1:c.1532C>T ENSP00000507633.1:p.Ala511Val
ENST00000682772.1:c.707C>T ENSP00000506848.1:p.Ala236Val
ENST00000682904.1:n.703C>T
ENST00000683029.1:n.295C>T
ENST00000683211.1:c.1877C>T ENSP00000508257.1:p.Ala626Val
ENST00000683250.1:c.*585C>T ENSP00000506847.1:n.*585C>T
ENST00000683418.1:n.4224C>T
ENST00000684153.1:c.1532C>T ENSP00000506937.1:p.Ala511Val
ENST00000684516.1:n.2896C>T
ENST00000358487.10:c.1883C>T MANE Select ENSP00000351276.6:p.Ala628Val
ENST00000336553.10:c.1610C>T ENSP00000337665.6:p.Ala537Val
ENST00000346997.6:c.1877C>T ENSP00000263451.5:p.Ala626Val
ENST00000351936.10:c.1883C>T ENSP00000309878.9:p.Ala628Val
ENST00000356226.8:c.1532C>T ENSP00000348559.4:p.Ala511Val
ENST00000357555.9:c.1616C>T ENSP00000350166.5:p.Ala539Val
ENST00000358487.9:c.1883C>T ENSP00000351276.5:p.Ala628Val
ENST00000360144.7:c.1619C>T ENSP00000353262.3:p.Ala540Val
ENST00000369056.5:c.1886C>T ENSP00000358052.1:p.Ala629Val
ENST00000369058.7:c.1886C>T ENSP00000358054.3:p.Ala629Val
ENST00000369059.5:c.1541C>T ENSP00000358055.1:p.Ala514Val
ENST00000369060.8:c.1535C>T ENSP00000358056.4:p.Ala512Val
ENST00000369061.8:c.1547C>T ENSP00000358057.4:p.Ala516Val
ENST00000429361.5:c.659C>T ENSP00000404219.1:p.Ala220Val
ENST00000457416.6:c.1886C>T ENSP00000410294.2:p.Ala629Val
ENST00000478859.5:c.1199C>T ENSP00000474011.1:p.Ala400Val
ENST00000604236.5:c.*930C>T ENSP00000474109.1:n.*930C>T
ENST00000613048.4:c.1616C>T ENSP00000484154.1:p.Ala539Val
NM_000141.4:c.1883C>T NP_000132.3:p.Ala628Val
NM_001144913.1:c.1886C>T NP_001138385.1:p.Ala629Val
NM_001144914.1:c.1547C>T NP_001138386.1:p.Ala516Val
NM_001144915.1:c.1616C>T NP_001138387.1:p.Ala539Val
NM_001144916.1:c.1538C>T NP_001138388.1:p.Ala513Val
NM_001144917.1:c.1535C>T NP_001138389.1:p.Ala512Val
NM_001144918.1:c.1532C>T NP_001138390.1:p.Ala511Val
NM_001144919.1:c.1619C>T NP_001138391.1:p.Ala540Val
NM_022970.3:c.1886C>T NP_075259.4:p.Ala629Val
NM_023029.2:c.1616C>T NP_075418.1:p.Ala539Val
NR_073009.1:n.2333C>T
XM_006717708.2:c.1937C>T XP_006717771.1:p.Ala646Val
XM_006717709.2:c.1934C>T XP_006717772.1:p.Ala645Val
XM_006717710.2:c.1943C>T XP_006717773.1:p.Ala648Val
XM_006717711.2:c.1676C>T XP_006717774.1:p.Ala559Val
XM_006717712.2:c.1598C>T XP_006717775.1:p.Ala533Val
XM_006717713.2:c.1940C>T XP_006717776.1:p.Ala647Val
XM_011539510.1:c.1199C>T XP_011537812.1:p.Ala400Val
NM_001320654.1:c.1199C>T NP_001307583.1:p.Ala400Val
NM_001320658.1:c.1877C>T NP_001307587.1:p.Ala626Val
XM_006717708.3:c.1937C>T XP_006717771.1:p.Ala646Val
XM_006717710.4:c.1943C>T XP_006717773.1:p.Ala648Val
XM_017015920.2:c.1937C>T XP_016871409.1:p.Ala646Val
XM_017015921.2:c.1934C>T XP_016871410.1:p.Ala645Val
XM_017015924.2:c.1595C>T XP_016871413.1:p.Ala532Val
XM_017015925.2:c.1589C>T XP_016871414.1:p.Ala530Val
XM_024447887.1:c.1673C>T XP_024303655.1:p.Ala558Val
XM_024447888.1:c.1670C>T XP_024303656.1:p.Ala557Val
XM_024447889.1:c.1667C>T XP_024303657.1:p.Ala556Val
XM_024447890.1:c.1676C>T XP_024303658.1:p.Ala559Val
XM_024447891.1:c.1598C>T XP_024303659.1:p.Ala533Val
XM_024447892.1:c.713C>T XP_024303660.1:p.Ala238Val
NM_000141.5:c.1883C>T MANE Select NP_000132.3:p.Ala628Val
NM_001144917.2:c.1535C>T NP_001138389.1:p.Ala512Val
NM_001144918.2:c.1532C>T NP_001138390.1:p.Ala511Val
NM_001144919.2:c.1619C>T NP_001138391.1:p.Ala540Val
NM_001320658.2:c.1877C>T NP_001307587.1:p.Ala626Val
NR_073009.2:n.2319C>T
NM_001144915.2:c.1616C>T NP_001138387.1:p.Ala539Val
NM_001144916.2:c.1538C>T NP_001138388.1:p.Ala513Val
NM_001320654.2:c.1199C>T NP_001307583.1:p.Ala400Val