Canonical Allele Identifier: CA378314321
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2133835406

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488014C>G , CM000672.2:g.121488014C>G GRCh38
NC_000010.10:g.123247528C>G , CM000672.1:g.123247528C>G GRCh37
NC_000010.9:g.123237518C>G NCBI36
NG_012449.1:g.115445G>C
NG_012449.2:g.115445G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1966G>C MANE Plus Clinical ENSP00000410294.2:p.Asp656His
ENST00000351936.11:c.1957G>C ENSP00000309878.10:p.Asp653His
ENST00000638709.2:c.787G>C ENSP00000491912.2:p.Asp263His
ENST00000682296.1:n.1305G>C
ENST00000682550.1:c.1612G>C ENSP00000507633.1:p.Asp538His
ENST00000682772.1:c.787G>C ENSP00000506848.1:p.Asp263His
ENST00000682904.1:n.783G>C
ENST00000683029.1:n.375G>C
ENST00000683211.1:c.1957G>C ENSP00000508257.1:p.Asp653His
ENST00000683250.1:c.*665G>C ENSP00000506847.1:n.*665G>C
ENST00000683418.1:n.4304G>C
ENST00000684153.1:c.1612G>C ENSP00000506937.1:p.Asp538His
ENST00000684516.1:n.2976G>C
ENST00000358487.10:c.1963G>C MANE Select ENSP00000351276.6:p.Asp655His
ENST00000336553.10:c.1690G>C ENSP00000337665.6:p.Asp564His
ENST00000346997.6:c.1957G>C ENSP00000263451.5:p.Asp653His
ENST00000351936.10:c.1963G>C ENSP00000309878.9:p.Asp655His
ENST00000356226.8:c.1612G>C ENSP00000348559.4:p.Asp538His
ENST00000357555.9:c.1696G>C ENSP00000350166.5:p.Asp566His
ENST00000358487.9:c.1963G>C ENSP00000351276.5:p.Asp655His
ENST00000360144.7:c.1699G>C ENSP00000353262.3:p.Asp567His
ENST00000369056.5:c.1966G>C ENSP00000358052.1:p.Asp656His
ENST00000369058.7:c.1966G>C ENSP00000358054.3:p.Asp656His
ENST00000369059.5:c.1621G>C ENSP00000358055.1:p.Asp541His
ENST00000369060.8:c.1615G>C ENSP00000358056.4:p.Asp539His
ENST00000369061.8:c.1627G>C ENSP00000358057.4:p.Asp543His
ENST00000429361.5:c.739G>C ENSP00000404219.1:p.Asp247His
ENST00000457416.6:c.1966G>C ENSP00000410294.2:p.Asp656His
ENST00000478859.5:c.1279G>C ENSP00000474011.1:p.Asp427His
ENST00000604236.5:c.*1010G>C ENSP00000474109.1:n.*1010G>C
ENST00000613048.4:c.1696G>C ENSP00000484154.1:p.Asp566His
NM_000141.4:c.1963G>C NP_000132.3:p.Asp655His
NM_001144913.1:c.1966G>C NP_001138385.1:p.Asp656His
NM_001144914.1:c.1627G>C NP_001138386.1:p.Asp543His
NM_001144915.1:c.1696G>C NP_001138387.1:p.Asp566His
NM_001144916.1:c.1618G>C NP_001138388.1:p.Asp540His
NM_001144917.1:c.1615G>C NP_001138389.1:p.Asp539His
NM_001144918.1:c.1612G>C NP_001138390.1:p.Asp538His
NM_001144919.1:c.1699G>C NP_001138391.1:p.Asp567His
NM_022970.3:c.1966G>C NP_075259.4:p.Asp656His
NM_023029.2:c.1696G>C NP_075418.1:p.Asp566His
NR_073009.1:n.2413G>C
XM_006717708.2:c.2017G>C XP_006717771.1:p.Asp673His
XM_006717709.2:c.2014G>C XP_006717772.1:p.Asp672His
XM_006717710.2:c.2023G>C XP_006717773.1:p.Asp675His
XM_006717711.2:c.1756G>C XP_006717774.1:p.Asp586His
XM_006717712.2:c.1678G>C XP_006717775.1:p.Asp560His
XM_006717713.2:c.2020G>C XP_006717776.1:p.Asp674His
XM_011539510.1:c.1279G>C XP_011537812.1:p.Asp427His
NM_001320654.1:c.1279G>C NP_001307583.1:p.Asp427His
NM_001320658.1:c.1957G>C NP_001307587.1:p.Asp653His
XM_006717708.3:c.2017G>C XP_006717771.1:p.Asp673His
XM_006717710.4:c.2023G>C XP_006717773.1:p.Asp675His
XM_017015920.2:c.2017G>C XP_016871409.1:p.Asp673His
XM_017015921.2:c.2014G>C XP_016871410.1:p.Asp672His
XM_017015924.2:c.1675G>C XP_016871413.1:p.Asp559His
XM_017015925.2:c.1669G>C XP_016871414.1:p.Asp557His
XM_024447887.1:c.1753G>C XP_024303655.1:p.Asp585His
XM_024447888.1:c.1750G>C XP_024303656.1:p.Asp584His
XM_024447889.1:c.1747G>C XP_024303657.1:p.Asp583His
XM_024447890.1:c.1756G>C XP_024303658.1:p.Asp586His
XM_024447891.1:c.1678G>C XP_024303659.1:p.Asp560His
XM_024447892.1:c.793G>C XP_024303660.1:p.Asp265His
NM_000141.5:c.1963G>C MANE Select NP_000132.3:p.Asp655His
NM_001144917.2:c.1615G>C NP_001138389.1:p.Asp539His
NM_001144918.2:c.1612G>C NP_001138390.1:p.Asp538His
NM_001144919.2:c.1699G>C NP_001138391.1:p.Asp567His
NM_001320658.2:c.1957G>C NP_001307587.1:p.Asp653His
NR_073009.2:n.2399G>C
NM_001144915.2:c.1696G>C NP_001138387.1:p.Asp566His
NM_001144916.2:c.1618G>C NP_001138388.1:p.Asp540His
NM_001320654.2:c.1279G>C NP_001307583.1:p.Asp427His