Canonical Allele Identifier: CA471649476
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2133976361
MyVariant Identifiers: chr10:g.123258097A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498583A>G , CM000672.2:g.121498583A>G GRCh38
NC_000010.10:g.123258097A>G , CM000672.1:g.123258097A>G GRCh37
NC_000010.9:g.123248087A>G NCBI36
NG_012449.1:g.104876T>C
NG_012449.2:g.104876T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1587T>C MANE Plus Clinical ENSP00000410294.2:p.Leu529=
ENST00000351936.11:c.1578T>C ENSP00000309878.10:p.Leu526=
ENST00000638709.2:c.408T>C ENSP00000491912.2:p.Leu136=
ENST00000682296.1:n.926T>C
ENST00000682550.1:c.1233T>C ENSP00000507633.1:p.Leu411=
ENST00000682772.1:c.408T>C ENSP00000506848.1:p.Leu136=
ENST00000682904.1:n.404T>C
ENST00000683211.1:c.1578T>C ENSP00000508257.1:p.Leu526=
ENST00000683250.1:c.*286T>C ENSP00000506847.1:n.*286T>C
ENST00000683418.1:n.3925T>C
ENST00000684153.1:c.1233T>C ENSP00000506937.1:p.Leu411=
ENST00000684516.1:n.2597T>C
ENST00000358487.10:c.1584T>C MANE Select ENSP00000351276.6:p.Leu528=
ENST00000336553.10:c.1311T>C ENSP00000337665.6:p.Leu437=
ENST00000346997.6:c.1578T>C ENSP00000263451.5:p.Leu526=
ENST00000351936.10:c.1584T>C ENSP00000309878.9:p.Leu528=
ENST00000356226.8:c.1233T>C ENSP00000348559.4:p.Leu411=
ENST00000357555.9:c.1317T>C ENSP00000350166.5:p.Leu439=
ENST00000358487.9:c.1584T>C ENSP00000351276.5:p.Leu528=
ENST00000360144.7:c.1320T>C ENSP00000353262.3:p.Leu440=
ENST00000369056.5:c.1587T>C ENSP00000358052.1:p.Leu529=
ENST00000369058.7:c.1587T>C ENSP00000358054.3:p.Leu529=
ENST00000369059.5:c.1242T>C ENSP00000358055.1:p.Leu414=
ENST00000369060.8:c.1236T>C ENSP00000358056.4:p.Leu412=
ENST00000369061.8:c.1248T>C ENSP00000358057.4:p.Leu416=
ENST00000429361.5:c.360T>C ENSP00000404219.1:p.Leu120=
ENST00000457416.6:c.1587T>C ENSP00000410294.2:p.Leu529=
ENST00000478859.5:c.900T>C ENSP00000474011.1:p.Leu300=
ENST00000604236.5:c.*631T>C ENSP00000474109.1:n.*631T>C
ENST00000613048.4:c.1317T>C ENSP00000484154.1:p.Leu439=
NM_000141.4:c.1584T>C NP_000132.3:p.Leu528=
NM_001144913.1:c.1587T>C NP_001138385.1:p.Leu529=
NM_001144914.1:c.1248T>C NP_001138386.1:p.Leu416=
NM_001144915.1:c.1317T>C NP_001138387.1:p.Leu439=
NM_001144916.1:c.1239T>C NP_001138388.1:p.Leu413=
NM_001144917.1:c.1236T>C NP_001138389.1:p.Leu412=
NM_001144918.1:c.1233T>C NP_001138390.1:p.Leu411=
NM_001144919.1:c.1320T>C NP_001138391.1:p.Leu440=
NM_022970.3:c.1587T>C NP_075259.4:p.Leu529=
NM_023029.2:c.1317T>C NP_075418.1:p.Leu439=
NR_073009.1:n.2034T>C
XM_006717708.2:c.1638T>C XP_006717771.1:p.Leu546=
XM_006717709.2:c.1635T>C XP_006717772.1:p.Leu545=
XM_006717710.2:c.1644T>C XP_006717773.1:p.Leu548=
XM_006717711.2:c.1377T>C XP_006717774.1:p.Leu459=
XM_006717712.2:c.1299T>C XP_006717775.1:p.Leu433=
XM_006717713.2:c.1641T>C XP_006717776.1:p.Leu547=
XM_011539510.1:c.900T>C XP_011537812.1:p.Leu300=
NM_001320654.1:c.900T>C NP_001307583.1:p.Leu300=
NM_001320658.1:c.1578T>C NP_001307587.1:p.Leu526=
XM_006717708.3:c.1638T>C XP_006717771.1:p.Leu546=
XM_006717710.4:c.1644T>C XP_006717773.1:p.Leu548=
XM_017015920.2:c.1638T>C XP_016871409.1:p.Leu546=
XM_017015921.2:c.1635T>C XP_016871410.1:p.Leu545=
XM_017015924.2:c.1296T>C XP_016871413.1:p.Leu432=
XM_017015925.2:c.1290T>C XP_016871414.1:p.Leu430=
XM_024447887.1:c.1374T>C XP_024303655.1:p.Leu458=
XM_024447888.1:c.1371T>C XP_024303656.1:p.Leu457=
XM_024447889.1:c.1368T>C XP_024303657.1:p.Leu456=
XM_024447890.1:c.1377T>C XP_024303658.1:p.Leu459=
XM_024447891.1:c.1299T>C XP_024303659.1:p.Leu433=
XM_024447892.1:c.414T>C XP_024303660.1:p.Leu138=
NM_000141.5:c.1584T>C MANE Select NP_000132.3:p.Leu528=
NM_001144917.2:c.1236T>C NP_001138389.1:p.Leu412=
NM_001144918.2:c.1233T>C NP_001138390.1:p.Leu411=
NM_001144919.2:c.1320T>C NP_001138391.1:p.Leu440=
NM_001320658.2:c.1578T>C NP_001307587.1:p.Leu526=
NR_073009.2:n.2020T>C
NM_001144915.2:c.1317T>C NP_001138387.1:p.Leu439=
NM_001144916.2:c.1239T>C NP_001138388.1:p.Leu413=
NM_001320654.2:c.900T>C NP_001307583.1:p.Leu300=