Canonical Allele Identifier: CA378315128
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2133839594

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488107G>A , CM000672.2:g.121488107G>A GRCh38
NC_000010.10:g.123247621G>A , CM000672.1:g.123247621G>A GRCh37
NC_000010.9:g.123237611G>A NCBI36
NG_012449.1:g.115352C>T
NG_012449.2:g.115352C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1873C>T MANE Plus Clinical ENSP00000410294.2:p.His625Tyr
ENST00000351936.11:c.1864C>T ENSP00000309878.10:p.His622Tyr
ENST00000638709.2:c.694C>T ENSP00000491912.2:p.His232Tyr
ENST00000682296.1:n.1212C>T
ENST00000682550.1:c.1519C>T ENSP00000507633.1:p.His507Tyr
ENST00000682772.1:c.694C>T ENSP00000506848.1:p.His232Tyr
ENST00000682904.1:n.690C>T
ENST00000683029.1:n.282C>T
ENST00000683211.1:c.1864C>T ENSP00000508257.1:p.His622Tyr
ENST00000683250.1:c.*572C>T ENSP00000506847.1:n.*572C>T
ENST00000683418.1:n.4211C>T
ENST00000684153.1:c.1519C>T ENSP00000506937.1:p.His507Tyr
ENST00000684516.1:n.2883C>T
ENST00000358487.10:c.1870C>T MANE Select ENSP00000351276.6:p.His624Tyr
ENST00000336553.10:c.1597C>T ENSP00000337665.6:p.His533Tyr
ENST00000346997.6:c.1864C>T ENSP00000263451.5:p.His622Tyr
ENST00000351936.10:c.1870C>T ENSP00000309878.9:p.His624Tyr
ENST00000356226.8:c.1519C>T ENSP00000348559.4:p.His507Tyr
ENST00000357555.9:c.1603C>T ENSP00000350166.5:p.His535Tyr
ENST00000358487.9:c.1870C>T ENSP00000351276.5:p.His624Tyr
ENST00000360144.7:c.1606C>T ENSP00000353262.3:p.His536Tyr
ENST00000369056.5:c.1873C>T ENSP00000358052.1:p.His625Tyr
ENST00000369058.7:c.1873C>T ENSP00000358054.3:p.His625Tyr
ENST00000369059.5:c.1528C>T ENSP00000358055.1:p.His510Tyr
ENST00000369060.8:c.1522C>T ENSP00000358056.4:p.His508Tyr
ENST00000369061.8:c.1534C>T ENSP00000358057.4:p.His512Tyr
ENST00000429361.5:c.646C>T ENSP00000404219.1:p.His216Tyr
ENST00000457416.6:c.1873C>T ENSP00000410294.2:p.His625Tyr
ENST00000478859.5:c.1186C>T ENSP00000474011.1:p.His396Tyr
ENST00000604236.5:c.*917C>T ENSP00000474109.1:n.*917C>T
ENST00000613048.4:c.1603C>T ENSP00000484154.1:p.His535Tyr
NM_000141.4:c.1870C>T NP_000132.3:p.His624Tyr
NM_001144913.1:c.1873C>T NP_001138385.1:p.His625Tyr
NM_001144914.1:c.1534C>T NP_001138386.1:p.His512Tyr
NM_001144915.1:c.1603C>T NP_001138387.1:p.His535Tyr
NM_001144916.1:c.1525C>T NP_001138388.1:p.His509Tyr
NM_001144917.1:c.1522C>T NP_001138389.1:p.His508Tyr
NM_001144918.1:c.1519C>T NP_001138390.1:p.His507Tyr
NM_001144919.1:c.1606C>T NP_001138391.1:p.His536Tyr
NM_022970.3:c.1873C>T NP_075259.4:p.His625Tyr
NM_023029.2:c.1603C>T NP_075418.1:p.His535Tyr
NR_073009.1:n.2320C>T
XM_006717708.2:c.1924C>T XP_006717771.1:p.His642Tyr
XM_006717709.2:c.1921C>T XP_006717772.1:p.His641Tyr
XM_006717710.2:c.1930C>T XP_006717773.1:p.His644Tyr
XM_006717711.2:c.1663C>T XP_006717774.1:p.His555Tyr
XM_006717712.2:c.1585C>T XP_006717775.1:p.His529Tyr
XM_006717713.2:c.1927C>T XP_006717776.1:p.His643Tyr
XM_011539510.1:c.1186C>T XP_011537812.1:p.His396Tyr
NM_001320654.1:c.1186C>T NP_001307583.1:p.His396Tyr
NM_001320658.1:c.1864C>T NP_001307587.1:p.His622Tyr
XM_006717708.3:c.1924C>T XP_006717771.1:p.His642Tyr
XM_006717710.4:c.1930C>T XP_006717773.1:p.His644Tyr
XM_017015920.2:c.1924C>T XP_016871409.1:p.His642Tyr
XM_017015921.2:c.1921C>T XP_016871410.1:p.His641Tyr
XM_017015924.2:c.1582C>T XP_016871413.1:p.His528Tyr
XM_017015925.2:c.1576C>T XP_016871414.1:p.His526Tyr
XM_024447887.1:c.1660C>T XP_024303655.1:p.His554Tyr
XM_024447888.1:c.1657C>T XP_024303656.1:p.His553Tyr
XM_024447889.1:c.1654C>T XP_024303657.1:p.His552Tyr
XM_024447890.1:c.1663C>T XP_024303658.1:p.His555Tyr
XM_024447891.1:c.1585C>T XP_024303659.1:p.His529Tyr
XM_024447892.1:c.700C>T XP_024303660.1:p.His234Tyr
NM_000141.5:c.1870C>T MANE Select NP_000132.3:p.His624Tyr
NM_001144917.2:c.1522C>T NP_001138389.1:p.His508Tyr
NM_001144918.2:c.1519C>T NP_001138390.1:p.His507Tyr
NM_001144919.2:c.1606C>T NP_001138391.1:p.His536Tyr
NM_001320658.2:c.1864C>T NP_001307587.1:p.His622Tyr
NR_073009.2:n.2306C>T
NM_001144915.2:c.1603C>T NP_001138387.1:p.His535Tyr
NM_001144916.2:c.1525C>T NP_001138388.1:p.His509Tyr
NM_001320654.2:c.1186C>T NP_001307583.1:p.His396Tyr