Canonical Allele Identifier: CA378314359
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488017T>G , CM000672.2:g.121488017T>G GRCh38
NC_000010.10:g.123247531T>G , CM000672.1:g.123247531T>G GRCh37
NC_000010.9:g.123237521T>G NCBI36
NG_012449.1:g.115442A>C
NG_012449.2:g.115442A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1963A>C MANE Plus Clinical ENSP00000410294.2:p.Ile655Leu
ENST00000351936.11:c.1954A>C ENSP00000309878.10:p.Ile652Leu
ENST00000638709.2:c.784A>C ENSP00000491912.2:p.Ile262Leu
ENST00000682296.1:n.1302A>C
ENST00000682550.1:c.1609A>C ENSP00000507633.1:p.Ile537Leu
ENST00000682772.1:c.784A>C ENSP00000506848.1:p.Ile262Leu
ENST00000682904.1:n.780A>C
ENST00000683029.1:n.372A>C
ENST00000683211.1:c.1954A>C ENSP00000508257.1:p.Ile652Leu
ENST00000683250.1:c.*662A>C ENSP00000506847.1:n.*662A>C
ENST00000683418.1:n.4301A>C
ENST00000684153.1:c.1609A>C ENSP00000506937.1:p.Ile537Leu
ENST00000684516.1:n.2973A>C
ENST00000358487.10:c.1960A>C MANE Select ENSP00000351276.6:p.Ile654Leu
ENST00000336553.10:c.1687A>C ENSP00000337665.6:p.Ile563Leu
ENST00000346997.6:c.1954A>C ENSP00000263451.5:p.Ile652Leu
ENST00000351936.10:c.1960A>C ENSP00000309878.9:p.Ile654Leu
ENST00000356226.8:c.1609A>C ENSP00000348559.4:p.Ile537Leu
ENST00000357555.9:c.1693A>C ENSP00000350166.5:p.Ile565Leu
ENST00000358487.9:c.1960A>C ENSP00000351276.5:p.Ile654Leu
ENST00000360144.7:c.1696A>C ENSP00000353262.3:p.Ile566Leu
ENST00000369056.5:c.1963A>C ENSP00000358052.1:p.Ile655Leu
ENST00000369058.7:c.1963A>C ENSP00000358054.3:p.Ile655Leu
ENST00000369059.5:c.1618A>C ENSP00000358055.1:p.Ile540Leu
ENST00000369060.8:c.1612A>C ENSP00000358056.4:p.Ile538Leu
ENST00000369061.8:c.1624A>C ENSP00000358057.4:p.Ile542Leu
ENST00000429361.5:c.736A>C ENSP00000404219.1:p.Ile246Leu
ENST00000457416.6:c.1963A>C ENSP00000410294.2:p.Ile655Leu
ENST00000478859.5:c.1276A>C ENSP00000474011.1:p.Ile426Leu
ENST00000604236.5:c.*1007A>C ENSP00000474109.1:n.*1007A>C
ENST00000613048.4:c.1693A>C ENSP00000484154.1:p.Ile565Leu
NM_000141.4:c.1960A>C NP_000132.3:p.Ile654Leu
NM_001144913.1:c.1963A>C NP_001138385.1:p.Ile655Leu
NM_001144914.1:c.1624A>C NP_001138386.1:p.Ile542Leu
NM_001144915.1:c.1693A>C NP_001138387.1:p.Ile565Leu
NM_001144916.1:c.1615A>C NP_001138388.1:p.Ile539Leu
NM_001144917.1:c.1612A>C NP_001138389.1:p.Ile538Leu
NM_001144918.1:c.1609A>C NP_001138390.1:p.Ile537Leu
NM_001144919.1:c.1696A>C NP_001138391.1:p.Ile566Leu
NM_022970.3:c.1963A>C NP_075259.4:p.Ile655Leu
NM_023029.2:c.1693A>C NP_075418.1:p.Ile565Leu
NR_073009.1:n.2410A>C
XM_006717708.2:c.2014A>C XP_006717771.1:p.Ile672Leu
XM_006717709.2:c.2011A>C XP_006717772.1:p.Ile671Leu
XM_006717710.2:c.2020A>C XP_006717773.1:p.Ile674Leu
XM_006717711.2:c.1753A>C XP_006717774.1:p.Ile585Leu
XM_006717712.2:c.1675A>C XP_006717775.1:p.Ile559Leu
XM_006717713.2:c.2017A>C XP_006717776.1:p.Ile673Leu
XM_011539510.1:c.1276A>C XP_011537812.1:p.Ile426Leu
NM_001320654.1:c.1276A>C NP_001307583.1:p.Ile426Leu
NM_001320658.1:c.1954A>C NP_001307587.1:p.Ile652Leu
XM_006717708.3:c.2014A>C XP_006717771.1:p.Ile672Leu
XM_006717710.4:c.2020A>C XP_006717773.1:p.Ile674Leu
XM_017015920.2:c.2014A>C XP_016871409.1:p.Ile672Leu
XM_017015921.2:c.2011A>C XP_016871410.1:p.Ile671Leu
XM_017015924.2:c.1672A>C XP_016871413.1:p.Ile558Leu
XM_017015925.2:c.1666A>C XP_016871414.1:p.Ile556Leu
XM_024447887.1:c.1750A>C XP_024303655.1:p.Ile584Leu
XM_024447888.1:c.1747A>C XP_024303656.1:p.Ile583Leu
XM_024447889.1:c.1744A>C XP_024303657.1:p.Ile582Leu
XM_024447890.1:c.1753A>C XP_024303658.1:p.Ile585Leu
XM_024447891.1:c.1675A>C XP_024303659.1:p.Ile559Leu
XM_024447892.1:c.790A>C XP_024303660.1:p.Ile264Leu
NM_000141.5:c.1960A>C MANE Select NP_000132.3:p.Ile654Leu
NM_001144917.2:c.1612A>C NP_001138389.1:p.Ile538Leu
NM_001144918.2:c.1609A>C NP_001138390.1:p.Ile537Leu
NM_001144919.2:c.1696A>C NP_001138391.1:p.Ile566Leu
NM_001320658.2:c.1954A>C NP_001307587.1:p.Ile652Leu
NR_073009.2:n.2396A>C
NM_001144915.2:c.1693A>C NP_001138387.1:p.Ile565Leu
NM_001144916.2:c.1615A>C NP_001138388.1:p.Ile539Leu
NM_001320654.2:c.1276A>C NP_001307583.1:p.Ile426Leu