Canonical Allele Identifier: CA280192

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 13294
• ClinVar RCV Id: RCV000014219 ; RCV000434384 ; RCV001851848 ; RCV003441716 ; RCV004532338
• dbSNP Id: rs121918506
• MyVariant Identifiers: chr10:g.123256215T>G (hg19) ; chr10:g.121496701T>G (hg38)
• PubMed: PMID:15523615 ; PMID:17803937

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1697A>C MANE Plus Clinical	ENSP00000410294.2:p.Glu566Ala
ENST00000351936.11:c.1688A>C	ENSP00000309878.10:p.Glu563Ala
ENST00000638709.2:c.518A>C	ENSP00000491912.2:p.Glu173Ala
ENST00000682296.1:n.1036A>C
ENST00000682550.1:c.1343A>C	ENSP00000507633.1:p.Glu448Ala
ENST00000682772.1:c.518A>C	ENSP00000506848.1:p.Glu173Ala
ENST00000682904.1:n.514A>C
ENST00000683029.1:n.106A>C
ENST00000683211.1:c.1688A>C	ENSP00000508257.1:p.Glu563Ala
ENST00000683250.1:c.*396A>C	ENSP00000506847.1:n.*396A>C
ENST00000683418.1:n.4035A>C
ENST00000684153.1:c.1343A>C	ENSP00000506937.1:p.Glu448Ala
ENST00000684516.1:n.2707A>C
ENST00000358487.10:c.1694A>C MANE Select	ENSP00000351276.6:p.Glu565Ala
ENST00000336553.10:c.1421A>C	ENSP00000337665.6:p.Glu474Ala
ENST00000346997.6:c.1688A>C	ENSP00000263451.5:p.Glu563Ala
ENST00000351936.10:c.1694A>C	ENSP00000309878.9:p.Glu565Ala
ENST00000356226.8:c.1343A>C	ENSP00000348559.4:p.Glu448Ala
ENST00000357555.9:c.1427A>C	ENSP00000350166.5:p.Glu476Ala
ENST00000358487.9:c.1694A>C	ENSP00000351276.5:p.Glu565Ala
ENST00000360144.7:c.1430A>C	ENSP00000353262.3:p.Glu477Ala
ENST00000369056.5:c.1697A>C	ENSP00000358052.1:p.Glu566Ala
ENST00000369058.7:c.1697A>C	ENSP00000358054.3:p.Glu566Ala
ENST00000369059.5:c.1352A>C	ENSP00000358055.1:p.Glu451Ala
ENST00000369060.8:c.1346A>C	ENSP00000358056.4:p.Glu449Ala
ENST00000369061.8:c.1358A>C	ENSP00000358057.4:p.Glu453Ala
ENST00000429361.5:c.470A>C	ENSP00000404219.1:p.Glu157Ala
ENST00000457416.6:c.1697A>C	ENSP00000410294.2:p.Glu566Ala
ENST00000478859.5:c.1010A>C	ENSP00000474011.1:p.Glu337Ala
ENST00000604236.5:c.*741A>C	ENSP00000474109.1:n.*741A>C
ENST00000613048.4:c.1427A>C	ENSP00000484154.1:p.Glu476Ala
NM_000141.4:c.1694A>C	NP_000132.3:p.Glu565Ala
NM_001144913.1:c.1697A>C	NP_001138385.1:p.Glu566Ala
NM_001144914.1:c.1358A>C	NP_001138386.1:p.Glu453Ala
NM_001144915.1:c.1427A>C	NP_001138387.1:p.Glu476Ala
NM_001144916.1:c.1349A>C	NP_001138388.1:p.Glu450Ala
NM_001144917.1:c.1346A>C	NP_001138389.1:p.Glu449Ala
NM_001144918.1:c.1343A>C	NP_001138390.1:p.Glu448Ala
NM_001144919.1:c.1430A>C	NP_001138391.1:p.Glu477Ala
NM_022970.3:c.1697A>C	NP_075259.4:p.Glu566Ala
NM_023029.2:c.1427A>C	NP_075418.1:p.Glu476Ala
NR_073009.1:n.2144A>C
XM_006717708.2:c.1748A>C	XP_006717771.1:p.Glu583Ala
XM_006717709.2:c.1745A>C	XP_006717772.1:p.Glu582Ala
XM_006717710.2:c.1754A>C	XP_006717773.1:p.Glu585Ala
XM_006717711.2:c.1487A>C	XP_006717774.1:p.Glu496Ala
XM_006717712.2:c.1409A>C	XP_006717775.1:p.Glu470Ala
XM_006717713.2:c.1751A>C	XP_006717776.1:p.Glu584Ala
XM_011539510.1:c.1010A>C	XP_011537812.1:p.Glu337Ala
NM_001320654.1:c.1010A>C	NP_001307583.1:p.Glu337Ala
NM_001320658.1:c.1688A>C	NP_001307587.1:p.Glu563Ala
XM_006717708.3:c.1748A>C	XP_006717771.1:p.Glu583Ala
XM_006717710.4:c.1754A>C	XP_006717773.1:p.Glu585Ala
XM_017015920.2:c.1748A>C	XP_016871409.1:p.Glu583Ala
XM_017015921.2:c.1745A>C	XP_016871410.1:p.Glu582Ala
XM_017015924.2:c.1406A>C	XP_016871413.1:p.Glu469Ala
XM_017015925.2:c.1400A>C	XP_016871414.1:p.Glu467Ala
XM_024447887.1:c.1484A>C	XP_024303655.1:p.Glu495Ala
XM_024447888.1:c.1481A>C	XP_024303656.1:p.Glu494Ala
XM_024447889.1:c.1478A>C	XP_024303657.1:p.Glu493Ala
XM_024447890.1:c.1487A>C	XP_024303658.1:p.Glu496Ala
XM_024447891.1:c.1409A>C	XP_024303659.1:p.Glu470Ala
XM_024447892.1:c.524A>C	XP_024303660.1:p.Glu175Ala
NM_000141.5:c.1694A>C MANE Select	NP_000132.3:p.Glu565Ala
NM_001144917.2:c.1346A>C	NP_001138389.1:p.Glu449Ala
NM_001144918.2:c.1343A>C	NP_001138390.1:p.Glu448Ala
NM_001144919.2:c.1430A>C	NP_001138391.1:p.Glu477Ala
NM_001320658.2:c.1688A>C	NP_001307587.1:p.Glu563Ala
NR_073009.2:n.2130A>C
NM_001144915.2:c.1427A>C	NP_001138387.1:p.Glu476Ala
NM_001144916.2:c.1349A>C	NP_001138388.1:p.Glu450Ala
NM_001320654.2:c.1010A>C	NP_001307583.1:p.Glu337Ala