Canonical Allele Identifier: CA378321704
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498582A>G , CM000672.2:g.121498582A>G GRCh38
NC_000010.10:g.123258096A>G , CM000672.1:g.123258096A>G GRCh37
NC_000010.9:g.123248086A>G NCBI36
NG_012449.1:g.104877T>C
NG_012449.2:g.104877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1588T>C MANE Plus Clinical ENSP00000410294.2:p.Ser530Pro
ENST00000351936.11:c.1579T>C ENSP00000309878.10:p.Ser527Pro
ENST00000638709.2:c.409T>C ENSP00000491912.2:p.Ser137Pro
ENST00000682296.1:n.927T>C
ENST00000682550.1:c.1234T>C ENSP00000507633.1:p.Ser412Pro
ENST00000682772.1:c.409T>C ENSP00000506848.1:p.Ser137Pro
ENST00000682904.1:n.405T>C
ENST00000683211.1:c.1579T>C ENSP00000508257.1:p.Ser527Pro
ENST00000683250.1:c.*287T>C ENSP00000506847.1:n.*287T>C
ENST00000683418.1:n.3926T>C
ENST00000684153.1:c.1234T>C ENSP00000506937.1:p.Ser412Pro
ENST00000684516.1:n.2598T>C
ENST00000358487.10:c.1585T>C MANE Select ENSP00000351276.6:p.Ser529Pro
ENST00000336553.10:c.1312T>C ENSP00000337665.6:p.Ser438Pro
ENST00000346997.6:c.1579T>C ENSP00000263451.5:p.Ser527Pro
ENST00000351936.10:c.1585T>C ENSP00000309878.9:p.Ser529Pro
ENST00000356226.8:c.1234T>C ENSP00000348559.4:p.Ser412Pro
ENST00000357555.9:c.1318T>C ENSP00000350166.5:p.Ser440Pro
ENST00000358487.9:c.1585T>C ENSP00000351276.5:p.Ser529Pro
ENST00000360144.7:c.1321T>C ENSP00000353262.3:p.Ser441Pro
ENST00000369056.5:c.1588T>C ENSP00000358052.1:p.Ser530Pro
ENST00000369058.7:c.1588T>C ENSP00000358054.3:p.Ser530Pro
ENST00000369059.5:c.1243T>C ENSP00000358055.1:p.Ser415Pro
ENST00000369060.8:c.1237T>C ENSP00000358056.4:p.Ser413Pro
ENST00000369061.8:c.1249T>C ENSP00000358057.4:p.Ser417Pro
ENST00000429361.5:c.361T>C ENSP00000404219.1:p.Ser121Pro
ENST00000457416.6:c.1588T>C ENSP00000410294.2:p.Ser530Pro
ENST00000478859.5:c.901T>C ENSP00000474011.1:p.Ser301Pro
ENST00000604236.5:c.*632T>C ENSP00000474109.1:n.*632T>C
ENST00000613048.4:c.1318T>C ENSP00000484154.1:p.Ser440Pro
NM_000141.4:c.1585T>C NP_000132.3:p.Ser529Pro
NM_001144913.1:c.1588T>C NP_001138385.1:p.Ser530Pro
NM_001144914.1:c.1249T>C NP_001138386.1:p.Ser417Pro
NM_001144915.1:c.1318T>C NP_001138387.1:p.Ser440Pro
NM_001144916.1:c.1240T>C NP_001138388.1:p.Ser414Pro
NM_001144917.1:c.1237T>C NP_001138389.1:p.Ser413Pro
NM_001144918.1:c.1234T>C NP_001138390.1:p.Ser412Pro
NM_001144919.1:c.1321T>C NP_001138391.1:p.Ser441Pro
NM_022970.3:c.1588T>C NP_075259.4:p.Ser530Pro
NM_023029.2:c.1318T>C NP_075418.1:p.Ser440Pro
NR_073009.1:n.2035T>C
XM_006717708.2:c.1639T>C XP_006717771.1:p.Ser547Pro
XM_006717709.2:c.1636T>C XP_006717772.1:p.Ser546Pro
XM_006717710.2:c.1645T>C XP_006717773.1:p.Ser549Pro
XM_006717711.2:c.1378T>C XP_006717774.1:p.Ser460Pro
XM_006717712.2:c.1300T>C XP_006717775.1:p.Ser434Pro
XM_006717713.2:c.1642T>C XP_006717776.1:p.Ser548Pro
XM_011539510.1:c.901T>C XP_011537812.1:p.Ser301Pro
NM_001320654.1:c.901T>C NP_001307583.1:p.Ser301Pro
NM_001320658.1:c.1579T>C NP_001307587.1:p.Ser527Pro
XM_006717708.3:c.1639T>C XP_006717771.1:p.Ser547Pro
XM_006717710.4:c.1645T>C XP_006717773.1:p.Ser549Pro
XM_017015920.2:c.1639T>C XP_016871409.1:p.Ser547Pro
XM_017015921.2:c.1636T>C XP_016871410.1:p.Ser546Pro
XM_017015924.2:c.1297T>C XP_016871413.1:p.Ser433Pro
XM_017015925.2:c.1291T>C XP_016871414.1:p.Ser431Pro
XM_024447887.1:c.1375T>C XP_024303655.1:p.Ser459Pro
XM_024447888.1:c.1372T>C XP_024303656.1:p.Ser458Pro
XM_024447889.1:c.1369T>C XP_024303657.1:p.Ser457Pro
XM_024447890.1:c.1378T>C XP_024303658.1:p.Ser460Pro
XM_024447891.1:c.1300T>C XP_024303659.1:p.Ser434Pro
XM_024447892.1:c.415T>C XP_024303660.1:p.Ser139Pro
NM_000141.5:c.1585T>C MANE Select NP_000132.3:p.Ser529Pro
NM_001144917.2:c.1237T>C NP_001138389.1:p.Ser413Pro
NM_001144918.2:c.1234T>C NP_001138390.1:p.Ser412Pro
NM_001144919.2:c.1321T>C NP_001138391.1:p.Ser441Pro
NM_001320658.2:c.1579T>C NP_001307587.1:p.Ser527Pro
NR_073009.2:n.2021T>C
NM_001144915.2:c.1318T>C NP_001138387.1:p.Ser440Pro
NM_001144916.2:c.1240T>C NP_001138388.1:p.Ser414Pro
NM_001320654.2:c.901T>C NP_001307583.1:p.Ser301Pro