Canonical Allele Identifier: CA2722757529
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs1849527992

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121515094C>G , CM000672.2:g.121515094C>G GRCh38
NC_000010.10:g.123274608C>G , CM000672.1:g.123274608C>G GRCh37
NC_000010.9:g.123264598C>G NCBI36
NG_012449.1:g.88365G>C
NG_012449.2:g.88365G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1290+23G>C MANE Plus Clinical ENSP00000410294.2:n.1290+23G>C
ENST00000351936.11:c.1281+29G>C ENSP00000309878.10:n.1281+29G>C
ENST00000638709.2:c.111+29G>C ENSP00000491912.2:n.111+29G>C
ENST00000682296.1:n.629+29G>C
ENST00000682550.1:c.936+29G>C ENSP00000507633.1:n.936+29G>C
ENST00000682772.1:c.111+29G>C ENSP00000506848.1:n.111+29G>C
ENST00000683211.1:c.1281+29G>C ENSP00000508257.1:n.1281+29G>C
ENST00000683250.1:c.404-11153G>C ENSP00000506847.1:n.404-11153G>C
ENST00000683418.1:n.3628+29G>C
ENST00000684153.1:c.936+29G>C ENSP00000506937.1:n.936+29G>C
ENST00000358487.10:c.1287+23G>C MANE Select ENSP00000351276.6:n.1287+23G>C
ENST00000336553.10:c.1014+29G>C ENSP00000337665.6:n.1014+29G>C
ENST00000346997.6:c.1281+29G>C ENSP00000263451.5:n.1281+29G>C
ENST00000351936.10:c.1287+29G>C ENSP00000309878.9:n.1287+29G>C
ENST00000356226.8:c.936+29G>C ENSP00000348559.4:n.936+29G>C
ENST00000357555.9:c.1020+23G>C ENSP00000350166.5:n.1020+23G>C
ENST00000358487.9:c.1287+23G>C ENSP00000351276.5:n.1287+23G>C
ENST00000360144.7:c.1023+23G>C ENSP00000353262.3:n.1023+23G>C
ENST00000369056.5:c.1290+23G>C ENSP00000358052.1:n.1290+23G>C
ENST00000369058.7:c.1290+23G>C ENSP00000358054.3:n.1290+23G>C
ENST00000369059.5:c.945+23G>C ENSP00000358055.1:n.945+23G>C
ENST00000369060.8:c.939+4885G>C ENSP00000358056.4:n.939+4885G>C
ENST00000369061.8:c.951+23G>C ENSP00000358057.4:n.951+23G>C
ENST00000429361.5:c.63+23G>C ENSP00000404219.1:n.63+23G>C
ENST00000457416.6:c.1290+23G>C ENSP00000410294.2:n.1290+23G>C
ENST00000478859.5:c.603+23G>C ENSP00000474011.1:n.603+23G>C
ENST00000604236.5:c.*334+23G>C ENSP00000474109.1:n.*334+23G>C
ENST00000613048.4:c.1020+23G>C ENSP00000484154.1:n.1020+23G>C
NM_000141.4:c.1287+23G>C NP_000132.3:n.1287+23G>C
NM_001144913.1:c.1290+23G>C NP_001138385.1:n.1290+23G>C
NM_001144914.1:c.951+23G>C NP_001138386.1:n.951+23G>C
NM_001144915.1:c.1020+23G>C NP_001138387.1:n.1020+23G>C
NM_001144916.1:c.942+23G>C NP_001138388.1:n.942+23G>C
NM_001144917.1:c.939+4885G>C NP_001138389.1:n.939+4885G>C
NM_001144918.1:c.936+29G>C NP_001138390.1:n.936+29G>C
NM_001144919.1:c.1023+23G>C NP_001138391.1:n.1023+23G>C
NM_022970.3:c.1290+23G>C NP_075259.4:n.1290+23G>C
NM_023029.2:c.1020+23G>C NP_075418.1:n.1020+23G>C
NR_073009.1:n.1737+23G>C
XM_006717708.2:c.1341+29G>C XP_006717771.1:n.1341+29G>C
XM_006717709.2:c.1338+29G>C XP_006717772.1:n.1338+29G>C
XM_006717710.2:c.1347+23G>C XP_006717773.1:n.1347+23G>C
XM_006717711.2:c.1080+23G>C XP_006717774.1:n.1080+23G>C
XM_006717712.2:c.1002+23G>C XP_006717775.1:n.1002+23G>C
XM_006717713.2:c.1344+23G>C XP_006717776.1:n.1344+23G>C
XM_011539510.1:c.603+23G>C XP_011537812.1:n.603+23G>C
NM_001320654.1:c.603+23G>C NP_001307583.1:n.603+23G>C
NM_001320658.1:c.1281+29G>C NP_001307587.1:n.1281+29G>C
XM_006717708.3:c.1341+29G>C XP_006717771.1:n.1341+29G>C
XM_006717710.4:c.1347+23G>C XP_006717773.1:n.1347+23G>C
XM_017015920.2:c.1341+29G>C XP_016871409.1:n.1341+29G>C
XM_017015921.2:c.1338+29G>C XP_016871410.1:n.1338+29G>C
XM_017015924.2:c.999+23G>C XP_016871413.1:n.999+23G>C
XM_017015925.2:c.993+29G>C XP_016871414.1:n.993+29G>C
XM_024447887.1:c.1077+23G>C XP_024303655.1:n.1077+23G>C
XM_024447888.1:c.1074+29G>C XP_024303656.1:n.1074+29G>C
XM_024447889.1:c.1071+29G>C XP_024303657.1:n.1071+29G>C
XM_024447890.1:c.1080+23G>C XP_024303658.1:n.1080+23G>C
XM_024447891.1:c.1002+23G>C XP_024303659.1:n.1002+23G>C
XM_024447892.1:c.117+23G>C XP_024303660.1:n.117+23G>C
NM_000141.5:c.1287+23G>C MANE Select NP_000132.3:n.1287+23G>C
NM_001144917.2:c.939+4885G>C NP_001138389.1:n.939+4885G>C
NM_001144918.2:c.936+29G>C NP_001138390.1:n.936+29G>C
NM_001144919.2:c.1023+23G>C NP_001138391.1:n.1023+23G>C
NM_001320658.2:c.1281+29G>C NP_001307587.1:n.1281+29G>C
NR_073009.2:n.1723+23G>C
NM_001144915.2:c.1020+23G>C NP_001138387.1:n.1020+23G>C
NM_001144916.2:c.942+23G>C NP_001138388.1:n.942+23G>C
NM_001320654.2:c.603+23G>C NP_001307583.1:n.603+23G>C