Canonical Allele Identifier: CA378321288
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498493A>C , CM000672.2:g.121498493A>C GRCh38
NC_000010.10:g.123258007A>C , CM000672.1:g.123258007A>C GRCh37
NC_000010.9:g.123247997A>C NCBI36
NG_012449.1:g.104966T>G
NG_012449.2:g.104966T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1675+2T>G MANE Plus Clinical ENSP00000410294.2:n.1675+2T>G
ENST00000351936.11:c.1666+2T>G ENSP00000309878.10:n.1666+2T>G
ENST00000638709.2:c.496+2T>G ENSP00000491912.2:n.496+2T>G
ENST00000682296.1:n.1014+2T>G
ENST00000682550.1:c.1321+2T>G ENSP00000507633.1:n.1321+2T>G
ENST00000682772.1:c.496+2T>G ENSP00000506848.1:n.496+2T>G
ENST00000682904.1:n.492+2T>G
ENST00000683211.1:c.1666+2T>G ENSP00000508257.1:n.1666+2T>G
ENST00000683250.1:c.*374+2T>G ENSP00000506847.1:n.*374+2T>G
ENST00000683418.1:n.4013+2T>G
ENST00000684153.1:c.1321+2T>G ENSP00000506937.1:n.1321+2T>G
ENST00000684516.1:n.2685+2T>G
ENST00000358487.10:c.1672+2T>G MANE Select ENSP00000351276.6:n.1672+2T>G
ENST00000336553.10:c.1399+2T>G ENSP00000337665.6:n.1399+2T>G
ENST00000346997.6:c.1666+2T>G ENSP00000263451.5:n.1666+2T>G
ENST00000351936.10:c.1672+2T>G ENSP00000309878.9:n.1672+2T>G
ENST00000356226.8:c.1321+2T>G ENSP00000348559.4:n.1321+2T>G
ENST00000357555.9:c.1405+2T>G ENSP00000350166.5:n.1405+2T>G
ENST00000358487.9:c.1672+2T>G ENSP00000351276.5:n.1672+2T>G
ENST00000360144.7:c.1408+2T>G ENSP00000353262.3:n.1408+2T>G
ENST00000369056.5:c.1675+2T>G ENSP00000358052.1:n.1675+2T>G
ENST00000369058.7:c.1675+2T>G ENSP00000358054.3:n.1675+2T>G
ENST00000369059.5:c.1330+2T>G ENSP00000358055.1:n.1330+2T>G
ENST00000369060.8:c.1324+2T>G ENSP00000358056.4:n.1324+2T>G
ENST00000369061.8:c.1336+2T>G ENSP00000358057.4:n.1336+2T>G
ENST00000429361.5:c.448+2T>G ENSP00000404219.1:n.448+2T>G
ENST00000457416.6:c.1675+2T>G ENSP00000410294.2:n.1675+2T>G
ENST00000478859.5:c.988+2T>G ENSP00000474011.1:n.988+2T>G
ENST00000604236.5:c.*719+2T>G ENSP00000474109.1:n.*719+2T>G
ENST00000613048.4:c.1405+2T>G ENSP00000484154.1:n.1405+2T>G
NM_000141.4:c.1672+2T>G NP_000132.3:n.1672+2T>G
NM_001144913.1:c.1675+2T>G NP_001138385.1:n.1675+2T>G
NM_001144914.1:c.1336+2T>G NP_001138386.1:n.1336+2T>G
NM_001144915.1:c.1405+2T>G NP_001138387.1:n.1405+2T>G
NM_001144916.1:c.1327+2T>G NP_001138388.1:n.1327+2T>G
NM_001144917.1:c.1324+2T>G NP_001138389.1:n.1324+2T>G
NM_001144918.1:c.1321+2T>G NP_001138390.1:n.1321+2T>G
NM_001144919.1:c.1408+2T>G NP_001138391.1:n.1408+2T>G
NM_022970.3:c.1675+2T>G NP_075259.4:n.1675+2T>G
NM_023029.2:c.1405+2T>G NP_075418.1:n.1405+2T>G
NR_073009.1:n.2122+2T>G
XM_006717708.2:c.1726+2T>G XP_006717771.1:n.1726+2T>G
XM_006717709.2:c.1723+2T>G XP_006717772.1:n.1723+2T>G
XM_006717710.2:c.1732+2T>G XP_006717773.1:n.1732+2T>G
XM_006717711.2:c.1465+2T>G XP_006717774.1:n.1465+2T>G
XM_006717712.2:c.1387+2T>G XP_006717775.1:n.1387+2T>G
XM_006717713.2:c.1729+2T>G XP_006717776.1:n.1729+2T>G
XM_011539510.1:c.988+2T>G XP_011537812.1:n.988+2T>G
NM_001320654.1:c.988+2T>G NP_001307583.1:n.988+2T>G
NM_001320658.1:c.1666+2T>G NP_001307587.1:n.1666+2T>G
XM_006717708.3:c.1726+2T>G XP_006717771.1:n.1726+2T>G
XM_006717710.4:c.1732+2T>G XP_006717773.1:n.1732+2T>G
XM_017015920.2:c.1726+2T>G XP_016871409.1:n.1726+2T>G
XM_017015921.2:c.1723+2T>G XP_016871410.1:n.1723+2T>G
XM_017015924.2:c.1384+2T>G XP_016871413.1:n.1384+2T>G
XM_017015925.2:c.1378+2T>G XP_016871414.1:n.1378+2T>G
XM_024447887.1:c.1462+2T>G XP_024303655.1:n.1462+2T>G
XM_024447888.1:c.1459+2T>G XP_024303656.1:n.1459+2T>G
XM_024447889.1:c.1456+2T>G XP_024303657.1:n.1456+2T>G
XM_024447890.1:c.1465+2T>G XP_024303658.1:n.1465+2T>G
XM_024447891.1:c.1387+2T>G XP_024303659.1:n.1387+2T>G
XM_024447892.1:c.502+2T>G XP_024303660.1:n.502+2T>G
NM_000141.5:c.1672+2T>G MANE Select NP_000132.3:n.1672+2T>G
NM_001144917.2:c.1324+2T>G NP_001138389.1:n.1324+2T>G
NM_001144918.2:c.1321+2T>G NP_001138390.1:n.1321+2T>G
NM_001144919.2:c.1408+2T>G NP_001138391.1:n.1408+2T>G
NM_001320658.2:c.1666+2T>G NP_001307587.1:n.1666+2T>G
NR_073009.2:n.2108+2T>G
NM_001144915.2:c.1405+2T>G NP_001138387.1:n.1405+2T>G
NM_001144916.2:c.1327+2T>G NP_001138388.1:n.1327+2T>G
NM_001320654.2:c.988+2T>G NP_001307583.1:n.988+2T>G