Canonical Allele Identifier: CA16043906

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 374823
• ClinVar RCV Id: RCV000415495 ; RCV000438913 ; RCV001549391 ; RCV001865307 ; RCV002488862
• dbSNP Id: rs121918506
• MyVariant Identifiers: chr10:g.123256215T>C (hg19) ; chr10:g.121496701T>C (hg38)
• PubMed: PMID:23908597

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121496701T>C , CM000672.2:g.121496701T>C	GRCh38
NC_000010.10:g.123256215T>C , CM000672.1:g.123256215T>C	GRCh37
NC_000010.9:g.123246205T>C	NCBI36
NG_012449.1:g.106758A>G
NG_012449.2:g.106758A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1697A>G MANE Plus Clinical	ENSP00000410294.2:p.Glu566Gly
ENST00000351936.11:c.1688A>G	ENSP00000309878.10:p.Glu563Gly
ENST00000638709.2:c.518A>G	ENSP00000491912.2:p.Glu173Gly
ENST00000682296.1:n.1036A>G
ENST00000682550.1:c.1343A>G	ENSP00000507633.1:p.Glu448Gly
ENST00000682772.1:c.518A>G	ENSP00000506848.1:p.Glu173Gly
ENST00000682904.1:n.514A>G
ENST00000683029.1:n.106A>G
ENST00000683211.1:c.1688A>G	ENSP00000508257.1:p.Glu563Gly
ENST00000683250.1:c.*396A>G	ENSP00000506847.1:n.*396A>G
ENST00000683418.1:n.4035A>G
ENST00000684153.1:c.1343A>G	ENSP00000506937.1:p.Glu448Gly
ENST00000684516.1:n.2707A>G
ENST00000358487.10:c.1694A>G MANE Select	ENSP00000351276.6:p.Glu565Gly
ENST00000336553.10:c.1421A>G	ENSP00000337665.6:p.Glu474Gly
ENST00000346997.6:c.1688A>G	ENSP00000263451.5:p.Glu563Gly
ENST00000351936.10:c.1694A>G	ENSP00000309878.9:p.Glu565Gly
ENST00000356226.8:c.1343A>G	ENSP00000348559.4:p.Glu448Gly
ENST00000357555.9:c.1427A>G	ENSP00000350166.5:p.Glu476Gly
ENST00000358487.9:c.1694A>G	ENSP00000351276.5:p.Glu565Gly
ENST00000360144.7:c.1430A>G	ENSP00000353262.3:p.Glu477Gly
ENST00000369056.5:c.1697A>G	ENSP00000358052.1:p.Glu566Gly
ENST00000369058.7:c.1697A>G	ENSP00000358054.3:p.Glu566Gly
ENST00000369059.5:c.1352A>G	ENSP00000358055.1:p.Glu451Gly
ENST00000369060.8:c.1346A>G	ENSP00000358056.4:p.Glu449Gly
ENST00000369061.8:c.1358A>G	ENSP00000358057.4:p.Glu453Gly
ENST00000429361.5:c.470A>G	ENSP00000404219.1:p.Glu157Gly
ENST00000457416.6:c.1697A>G	ENSP00000410294.2:p.Glu566Gly
ENST00000478859.5:c.1010A>G	ENSP00000474011.1:p.Glu337Gly
ENST00000604236.5:c.*741A>G	ENSP00000474109.1:n.*741A>G
ENST00000613048.4:c.1427A>G	ENSP00000484154.1:p.Glu476Gly
NM_000141.4:c.1694A>G	NP_000132.3:p.Glu565Gly
NM_001144913.1:c.1697A>G	NP_001138385.1:p.Glu566Gly
NM_001144914.1:c.1358A>G	NP_001138386.1:p.Glu453Gly
NM_001144915.1:c.1427A>G	NP_001138387.1:p.Glu476Gly
NM_001144916.1:c.1349A>G	NP_001138388.1:p.Glu450Gly
NM_001144917.1:c.1346A>G	NP_001138389.1:p.Glu449Gly
NM_001144918.1:c.1343A>G	NP_001138390.1:p.Glu448Gly
NM_001144919.1:c.1430A>G	NP_001138391.1:p.Glu477Gly
NM_022970.3:c.1697A>G	NP_075259.4:p.Glu566Gly
NM_023029.2:c.1427A>G	NP_075418.1:p.Glu476Gly
NR_073009.1:n.2144A>G
XM_006717708.2:c.1748A>G	XP_006717771.1:p.Glu583Gly
XM_006717709.2:c.1745A>G	XP_006717772.1:p.Glu582Gly
XM_006717710.2:c.1754A>G	XP_006717773.1:p.Glu585Gly
XM_006717711.2:c.1487A>G	XP_006717774.1:p.Glu496Gly
XM_006717712.2:c.1409A>G	XP_006717775.1:p.Glu470Gly
XM_006717713.2:c.1751A>G	XP_006717776.1:p.Glu584Gly
XM_011539510.1:c.1010A>G	XP_011537812.1:p.Glu337Gly
NM_001320654.1:c.1010A>G	NP_001307583.1:p.Glu337Gly
NM_001320658.1:c.1688A>G	NP_001307587.1:p.Glu563Gly
XM_006717708.3:c.1748A>G	XP_006717771.1:p.Glu583Gly
XM_006717710.4:c.1754A>G	XP_006717773.1:p.Glu585Gly
XM_017015920.2:c.1748A>G	XP_016871409.1:p.Glu583Gly
XM_017015921.2:c.1745A>G	XP_016871410.1:p.Glu582Gly
XM_017015924.2:c.1406A>G	XP_016871413.1:p.Glu469Gly
XM_017015925.2:c.1400A>G	XP_016871414.1:p.Glu467Gly
XM_024447887.1:c.1484A>G	XP_024303655.1:p.Glu495Gly
XM_024447888.1:c.1481A>G	XP_024303656.1:p.Glu494Gly
XM_024447889.1:c.1478A>G	XP_024303657.1:p.Glu493Gly
XM_024447890.1:c.1487A>G	XP_024303658.1:p.Glu496Gly
XM_024447891.1:c.1409A>G	XP_024303659.1:p.Glu470Gly
XM_024447892.1:c.524A>G	XP_024303660.1:p.Glu175Gly
NM_000141.5:c.1694A>G MANE Select	NP_000132.3:p.Glu565Gly
NM_001144917.2:c.1346A>G	NP_001138389.1:p.Glu449Gly
NM_001144918.2:c.1343A>G	NP_001138390.1:p.Glu448Gly
NM_001144919.2:c.1430A>G	NP_001138391.1:p.Glu477Gly
NM_001320658.2:c.1688A>G	NP_001307587.1:p.Glu563Gly
NR_073009.2:n.2130A>G
NM_001144915.2:c.1427A>G	NP_001138387.1:p.Glu476Gly
NM_001144916.2:c.1349A>G	NP_001138388.1:p.Glu450Gly
NM_001320654.2:c.1010A>G	NP_001307583.1:p.Glu337Gly