Canonical Allele Identifier: CA256747
Gene: FGFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13278
ClinVar RCV Id: RCV000014200 RCV000424237 RCV001382546
dbSNP Id: rs121913477
COSMIC: COSM36905
MyVariant Identifiers: chr10:g.123274803G>C (hg19) chr10:g.121515289G>C (hg38)
PubMed: PMID:8696350 PMID:18247426 PMID:21367659 PMID:25157968
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121515289G>C , CM000672.2:g.121515289G>C GRCh38
NC_000010.10:g.123274803G>C , CM000672.1:g.123274803G>C GRCh37
NC_000010.9:g.123264793G>C NCBI36
NG_012449.1:g.88170C>G
NG_012449.2:g.88170C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.1118C>G MANE Plus Clinical ENSP00000410294.2:p.Ser373Cys
ENST00000351936.11:c.1115C>G ENSP00000309878.10:p.Ser372Cys
ENST00000638709.2:c.-56C>G ENSP00000491912.2:n.-56C>G
ENST00000682296.1:n.463C>G
ENST00000682550.1:c.770C>G ENSP00000507633.1:p.Ser257Cys
ENST00000682772.1:c.-56C>G ENSP00000506848.1:n.-56C>G
ENST00000683211.1:c.1115C>G ENSP00000508257.1:p.Ser372Cys
ENST00000683250.1:c.404-11348C>G ENSP00000506847.1:n.404-11348C>G
ENST00000683418.1:n.3462C>G
ENST00000684153.1:c.770C>G ENSP00000506937.1:p.Ser257Cys
ENST00000358487.10:c.1115C>G MANE Select ENSP00000351276.6:p.Ser372Cys
ENST00000336553.10:c.848C>G ENSP00000337665.6:p.Ser283Cys
ENST00000346997.6:c.1115C>G ENSP00000263451.5:p.Ser372Cys
ENST00000351936.10:c.1121C>G ENSP00000309878.9:p.Ser374Cys
ENST00000356226.8:c.770C>G ENSP00000348559.4:p.Ser257Cys
ENST00000357555.9:c.848C>G ENSP00000350166.5:p.Ser283Cys
ENST00000358487.9:c.1115C>G ENSP00000351276.5:p.Ser372Cys
ENST00000360144.7:c.851C>G ENSP00000353262.3:p.Ser284Cys
ENST00000369056.5:c.1118C>G ENSP00000358052.1:p.Ser373Cys
ENST00000369058.7:c.1118C>G ENSP00000358054.3:p.Ser373Cys
ENST00000369059.5:c.773C>G ENSP00000358055.1:p.Ser258Cys
ENST00000369060.8:c.939+4690C>G ENSP00000358056.4:n.939+4690C>G
ENST00000369061.8:c.779C>G ENSP00000358057.4:p.Ser260Cys
ENST00000457416.6:c.1118C>G ENSP00000410294.2:p.Ser373Cys
ENST00000463870.5:n.324C>G
ENST00000478859.5:c.431C>G ENSP00000474011.1:p.Ser144Cys
ENST00000604236.5:c.*162C>G ENSP00000474109.1:n.*162C>G
ENST00000613048.4:c.848C>G ENSP00000484154.1:p.Ser283Cys
NM_000141.4:c.1115C>G NP_000132.3:p.Ser372Cys
NM_001144913.1:c.1118C>G NP_001138385.1:p.Ser373Cys
NM_001144914.1:c.779C>G NP_001138386.1:p.Ser260Cys
NM_001144915.1:c.848C>G NP_001138387.1:p.Ser283Cys
NM_001144916.1:c.770C>G NP_001138388.1:p.Ser257Cys
NM_001144917.1:c.939+4690C>G NP_001138389.1:n.939+4690C>G
NM_001144918.1:c.770C>G NP_001138390.1:p.Ser257Cys
NM_001144919.1:c.851C>G NP_001138391.1:p.Ser284Cys
NM_022970.3:c.1118C>G NP_075259.4:p.Ser373Cys
NM_023029.2:c.848C>G NP_075418.1:p.Ser283Cys
NR_073009.1:n.1565C>G
XM_006717708.2:c.1175C>G XP_006717771.1:p.Ser392Cys
XM_006717709.2:c.1172C>G XP_006717772.1:p.Ser391Cys
XM_006717710.2:c.1175C>G XP_006717773.1:p.Ser392Cys
XM_006717711.2:c.908C>G XP_006717774.1:p.Ser303Cys
XM_006717712.2:c.830C>G XP_006717775.1:p.Ser277Cys
XM_006717713.2:c.1172C>G XP_006717776.1:p.Ser391Cys
XM_011539510.1:c.431C>G XP_011537812.1:p.Ser144Cys
NM_001320654.1:c.431C>G NP_001307583.1:p.Ser144Cys
NM_001320658.1:c.1115C>G NP_001307587.1:p.Ser372Cys
XM_006717708.3:c.1175C>G XP_006717771.1:p.Ser392Cys
XM_006717710.4:c.1175C>G XP_006717773.1:p.Ser392Cys
XM_017015920.2:c.1175C>G XP_016871409.1:p.Ser392Cys
XM_017015921.2:c.1172C>G XP_016871410.1:p.Ser391Cys
XM_017015924.2:c.827C>G XP_016871413.1:p.Ser276Cys
XM_017015925.2:c.827C>G XP_016871414.1:p.Ser276Cys
XM_024447887.1:c.905C>G XP_024303655.1:p.Ser302Cys
XM_024447888.1:c.908C>G XP_024303656.1:p.Ser303Cys
XM_024447889.1:c.905C>G XP_024303657.1:p.Ser302Cys
XM_024447890.1:c.908C>G XP_024303658.1:p.Ser303Cys
XM_024447891.1:c.830C>G XP_024303659.1:p.Ser277Cys
XM_024447892.1:c.-56C>G XP_024303660.1:n.-56C>G
NM_000141.5:c.1115C>G MANE Select NP_000132.3:p.Ser372Cys
NM_001144917.2:c.939+4690C>G NP_001138389.1:n.939+4690C>G
NM_001144918.2:c.770C>G NP_001138390.1:p.Ser257Cys
NM_001144919.2:c.851C>G NP_001138391.1:p.Ser284Cys
NM_001320658.2:c.1115C>G NP_001307587.1:p.Ser372Cys
NR_073009.2:n.1551C>G
NM_001144915.2:c.848C>G NP_001138387.1:p.Ser283Cys
NM_001144916.2:c.770C>G NP_001138388.1:p.Ser257Cys
NM_001320654.2:c.431C>G NP_001307583.1:p.Ser144Cys
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