Canonical Allele Identifier: CA378327664
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517334A>C , CM000672.2:g.121517334A>C GRCh38
NC_000010.10:g.123276848A>C , CM000672.1:g.123276848A>C GRCh37
NC_000010.9:g.123266838A>C NCBI36
NG_012449.1:g.86125T>G
NG_012449.2:g.86125T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1087+1348T>G MANE Plus Clinical ENSP00000410294.2:n.1087+1348T>G
ENST00000351936.11:c.1069T>G ENSP00000309878.10:p.Leu357Val
ENST00000638709.2:c.-102T>G ENSP00000491912.2:n.-102T>G
ENST00000682296.1:n.417T>G
ENST00000682400.1:n.724T>G
ENST00000682550.1:c.724T>G ENSP00000507633.1:p.Leu242Val
ENST00000682772.1:c.-102T>G ENSP00000506848.1:n.-102T>G
ENST00000683211.1:c.1069T>G ENSP00000508257.1:p.Leu357Val
ENST00000683250.1:c.404-13393T>G ENSP00000506847.1:n.404-13393T>G
ENST00000683418.1:n.3416T>G
ENST00000683678.1:n.1069T>G
ENST00000684153.1:c.724T>G ENSP00000506937.1:p.Leu242Val
ENST00000358487.10:c.1069T>G MANE Select ENSP00000351276.6:p.Leu357Val
ENST00000336553.10:c.802T>G ENSP00000337665.6:p.Leu268Val
ENST00000346997.6:c.1069T>G ENSP00000263451.5:p.Leu357Val
ENST00000351936.10:c.1075T>G ENSP00000309878.9:p.Leu359Val
ENST00000356226.8:c.724T>G ENSP00000348559.4:p.Leu242Val
ENST00000357555.9:c.802T>G ENSP00000350166.5:p.Leu268Val
ENST00000358487.9:c.1069T>G ENSP00000351276.5:p.Leu357Val
ENST00000360144.7:c.820+1348T>G ENSP00000353262.3:n.820+1348T>G
ENST00000369056.5:c.1087+1348T>G ENSP00000358052.1:n.1087+1348T>G
ENST00000369058.7:c.1087+1348T>G ENSP00000358054.3:n.1087+1348T>G
ENST00000369059.5:c.742+1348T>G ENSP00000358055.1:n.742+1348T>G
ENST00000369060.8:c.939+2645T>G ENSP00000358056.4:n.939+2645T>G
ENST00000369061.8:c.749-2015T>G ENSP00000358057.4:n.749-2015T>G
ENST00000457416.6:c.1087+1348T>G ENSP00000410294.2:n.1087+1348T>G
ENST00000463870.5:n.278T>G
ENST00000478859.5:c.385T>G ENSP00000474011.1:p.Leu129Val
ENST00000490349.5:n.1478T>G
ENST00000604236.5:c.*116T>G ENSP00000474109.1:n.*116T>G
ENST00000613048.4:c.802T>G ENSP00000484154.1:p.Leu268Val
NM_000141.4:c.1069T>G NP_000132.3:p.Leu357Val
NM_001144913.1:c.1087+1348T>G NP_001138385.1:n.1087+1348T>G
NM_001144914.1:c.749-2015T>G NP_001138386.1:n.749-2015T>G
NM_001144915.1:c.802T>G NP_001138387.1:p.Leu268Val
NM_001144916.1:c.724T>G NP_001138388.1:p.Leu242Val
NM_001144917.1:c.939+2645T>G NP_001138389.1:n.939+2645T>G
NM_001144918.1:c.724T>G NP_001138390.1:p.Leu242Val
NM_001144919.1:c.820+1348T>G NP_001138391.1:n.820+1348T>G
NM_022970.3:c.1087+1348T>G NP_075259.4:n.1087+1348T>G
NM_023029.2:c.802T>G NP_075418.1:p.Leu268Val
NR_073009.1:n.1519T>G
XM_006717708.2:c.1144+1348T>G XP_006717771.1:n.1144+1348T>G
XM_006717709.2:c.1126T>G XP_006717772.1:p.Leu376Val
XM_006717710.2:c.1144+1348T>G XP_006717773.1:n.1144+1348T>G
XM_006717711.2:c.877+1348T>G XP_006717774.1:n.877+1348T>G
XM_006717712.2:c.799+1348T>G XP_006717775.1:n.799+1348T>G
XM_006717713.2:c.1126T>G XP_006717776.1:p.Leu376Val
XM_011539510.1:c.385T>G XP_011537812.1:p.Leu129Val
NM_001320654.1:c.385T>G NP_001307583.1:p.Leu129Val
NM_001320658.1:c.1069T>G NP_001307587.1:p.Leu357Val
XM_006717708.3:c.1144+1348T>G XP_006717771.1:n.1144+1348T>G
XM_006717710.4:c.1144+1348T>G XP_006717773.1:n.1144+1348T>G
XM_017015920.2:c.1144+1348T>G XP_016871409.1:n.1144+1348T>G
XM_017015921.2:c.1126T>G XP_016871410.1:p.Leu376Val
XM_017015924.2:c.781T>G XP_016871413.1:p.Leu261Val
XM_017015925.2:c.781T>G XP_016871414.1:p.Leu261Val
XM_024447887.1:c.859T>G XP_024303655.1:p.Leu287Val
XM_024447888.1:c.877+1348T>G XP_024303656.1:n.877+1348T>G
XM_024447889.1:c.859T>G XP_024303657.1:p.Leu287Val
XM_024447890.1:c.877+1348T>G XP_024303658.1:n.877+1348T>G
XM_024447891.1:c.799+1348T>G XP_024303659.1:n.799+1348T>G
XM_024447892.1:c.-102T>G XP_024303660.1:n.-102T>G
NM_000141.5:c.1069T>G MANE Select NP_000132.3:p.Leu357Val
NM_001144917.2:c.939+2645T>G NP_001138389.1:n.939+2645T>G
NM_001144918.2:c.724T>G NP_001138390.1:p.Leu242Val
NM_001144919.2:c.820+1348T>G NP_001138391.1:n.820+1348T>G
NM_001320658.2:c.1069T>G NP_001307587.1:p.Leu357Val
NR_073009.2:n.1505T>G
NM_001144915.2:c.802T>G NP_001138387.1:p.Leu268Val
NM_001144916.2:c.724T>G NP_001138388.1:p.Leu242Val
NM_001320654.2:c.385T>G NP_001307583.1:p.Leu129Val