Canonical Allele Identifier: CA378321614
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498566T>G , CM000672.2:g.121498566T>G GRCh38
NC_000010.10:g.123258080T>G , CM000672.1:g.123258080T>G GRCh37
NC_000010.9:g.123248070T>G NCBI36
NG_012449.1:g.104893A>C
NG_012449.2:g.104893A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1604A>C MANE Plus Clinical ENSP00000410294.2:p.Glu535Ala
ENST00000351936.11:c.1595A>C ENSP00000309878.10:p.Glu532Ala
ENST00000638709.2:c.425A>C ENSP00000491912.2:p.Glu142Ala
ENST00000682296.1:n.943A>C
ENST00000682550.1:c.1250A>C ENSP00000507633.1:p.Glu417Ala
ENST00000682772.1:c.425A>C ENSP00000506848.1:p.Glu142Ala
ENST00000682904.1:n.421A>C
ENST00000683211.1:c.1595A>C ENSP00000508257.1:p.Glu532Ala
ENST00000683250.1:c.*303A>C ENSP00000506847.1:n.*303A>C
ENST00000683418.1:n.3942A>C
ENST00000684153.1:c.1250A>C ENSP00000506937.1:p.Glu417Ala
ENST00000684516.1:n.2614A>C
ENST00000358487.10:c.1601A>C MANE Select ENSP00000351276.6:p.Glu534Ala
ENST00000336553.10:c.1328A>C ENSP00000337665.6:p.Glu443Ala
ENST00000346997.6:c.1595A>C ENSP00000263451.5:p.Glu532Ala
ENST00000351936.10:c.1601A>C ENSP00000309878.9:p.Glu534Ala
ENST00000356226.8:c.1250A>C ENSP00000348559.4:p.Glu417Ala
ENST00000357555.9:c.1334A>C ENSP00000350166.5:p.Glu445Ala
ENST00000358487.9:c.1601A>C ENSP00000351276.5:p.Glu534Ala
ENST00000360144.7:c.1337A>C ENSP00000353262.3:p.Glu446Ala
ENST00000369056.5:c.1604A>C ENSP00000358052.1:p.Glu535Ala
ENST00000369058.7:c.1604A>C ENSP00000358054.3:p.Glu535Ala
ENST00000369059.5:c.1259A>C ENSP00000358055.1:p.Glu420Ala
ENST00000369060.8:c.1253A>C ENSP00000358056.4:p.Glu418Ala
ENST00000369061.8:c.1265A>C ENSP00000358057.4:p.Glu422Ala
ENST00000429361.5:c.377A>C ENSP00000404219.1:p.Glu126Ala
ENST00000457416.6:c.1604A>C ENSP00000410294.2:p.Glu535Ala
ENST00000478859.5:c.917A>C ENSP00000474011.1:p.Glu306Ala
ENST00000604236.5:c.*648A>C ENSP00000474109.1:n.*648A>C
ENST00000613048.4:c.1334A>C ENSP00000484154.1:p.Glu445Ala
NM_000141.4:c.1601A>C NP_000132.3:p.Glu534Ala
NM_001144913.1:c.1604A>C NP_001138385.1:p.Glu535Ala
NM_001144914.1:c.1265A>C NP_001138386.1:p.Glu422Ala
NM_001144915.1:c.1334A>C NP_001138387.1:p.Glu445Ala
NM_001144916.1:c.1256A>C NP_001138388.1:p.Glu419Ala
NM_001144917.1:c.1253A>C NP_001138389.1:p.Glu418Ala
NM_001144918.1:c.1250A>C NP_001138390.1:p.Glu417Ala
NM_001144919.1:c.1337A>C NP_001138391.1:p.Glu446Ala
NM_022970.3:c.1604A>C NP_075259.4:p.Glu535Ala
NM_023029.2:c.1334A>C NP_075418.1:p.Glu445Ala
NR_073009.1:n.2051A>C
XM_006717708.2:c.1655A>C XP_006717771.1:p.Glu552Ala
XM_006717709.2:c.1652A>C XP_006717772.1:p.Glu551Ala
XM_006717710.2:c.1661A>C XP_006717773.1:p.Glu554Ala
XM_006717711.2:c.1394A>C XP_006717774.1:p.Glu465Ala
XM_006717712.2:c.1316A>C XP_006717775.1:p.Glu439Ala
XM_006717713.2:c.1658A>C XP_006717776.1:p.Glu553Ala
XM_011539510.1:c.917A>C XP_011537812.1:p.Glu306Ala
NM_001320654.1:c.917A>C NP_001307583.1:p.Glu306Ala
NM_001320658.1:c.1595A>C NP_001307587.1:p.Glu532Ala
XM_006717708.3:c.1655A>C XP_006717771.1:p.Glu552Ala
XM_006717710.4:c.1661A>C XP_006717773.1:p.Glu554Ala
XM_017015920.2:c.1655A>C XP_016871409.1:p.Glu552Ala
XM_017015921.2:c.1652A>C XP_016871410.1:p.Glu551Ala
XM_017015924.2:c.1313A>C XP_016871413.1:p.Glu438Ala
XM_017015925.2:c.1307A>C XP_016871414.1:p.Glu436Ala
XM_024447887.1:c.1391A>C XP_024303655.1:p.Glu464Ala
XM_024447888.1:c.1388A>C XP_024303656.1:p.Glu463Ala
XM_024447889.1:c.1385A>C XP_024303657.1:p.Glu462Ala
XM_024447890.1:c.1394A>C XP_024303658.1:p.Glu465Ala
XM_024447891.1:c.1316A>C XP_024303659.1:p.Glu439Ala
XM_024447892.1:c.431A>C XP_024303660.1:p.Glu144Ala
NM_000141.5:c.1601A>C MANE Select NP_000132.3:p.Glu534Ala
NM_001144917.2:c.1253A>C NP_001138389.1:p.Glu418Ala
NM_001144918.2:c.1250A>C NP_001138390.1:p.Glu417Ala
NM_001144919.2:c.1337A>C NP_001138391.1:p.Glu446Ala
NM_001320658.2:c.1595A>C NP_001307587.1:p.Glu532Ala
NR_073009.2:n.2037A>C
NM_001144915.2:c.1334A>C NP_001138387.1:p.Glu445Ala
NM_001144916.2:c.1256A>C NP_001138388.1:p.Glu419Ala
NM_001320654.2:c.917A>C NP_001307583.1:p.Glu306Ala