Canonical Allele Identifier: CA122994

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 13293
• ClinVar RCV Id: RCV000014217 ; RCV000014218 ; RCV000655418 ; RCV001268882 ; RCV002490362
• dbSNP Id: rs121918499
• MyVariant Identifiers: chr10:g.123279562C>A (hg19) ; chr10:g.121520048C>A (hg38)
• PubMed: PMID:9150725 ; PMID:9475591 ; PMID:12400058

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121520048C>A , CM000672.2:g.121520048C>A	GRCh38
NC_000010.10:g.123279562C>A , CM000672.1:g.123279562C>A	GRCh37
NC_000010.9:g.123269552C>A	NCBI36
NG_012449.1:g.83411G>T
NG_012449.2:g.83411G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.870G>T MANE Plus Clinical	ENSP00000410294.2:p.Trp290Cys
ENST00000351936.11:c.870G>T	ENSP00000309878.10:p.Trp290Cys
ENST00000638709.2:c.-301G>T	ENSP00000491912.2:n.-301G>T
ENST00000682296.1:n.218G>T
ENST00000682400.1:n.525G>T
ENST00000682550.1:c.525G>T	ENSP00000507633.1:p.Trp175Cys
ENST00000682772.1:c.-301G>T	ENSP00000506848.1:n.-301G>T
ENST00000683211.1:c.870G>T	ENSP00000508257.1:p.Trp290Cys
ENST00000683250.1:c.404-16107G>T	ENSP00000506847.1:n.404-16107G>T
ENST00000683418.1:n.3217G>T
ENST00000683678.1:n.870G>T
ENST00000684153.1:c.525G>T	ENSP00000506937.1:p.Trp175Cys
ENST00000358487.10:c.870G>T MANE Select	ENSP00000351276.6:p.Trp290Cys
ENST00000336553.10:c.603G>T	ENSP00000337665.6:p.Trp201Cys
ENST00000346997.6:c.870G>T	ENSP00000263451.5:p.Trp290Cys
ENST00000351936.10:c.870G>T	ENSP00000309878.9:p.Trp290Cys
ENST00000356226.8:c.525G>T	ENSP00000348559.4:p.Trp175Cys
ENST00000357555.9:c.603G>T	ENSP00000350166.5:p.Trp201Cys
ENST00000358487.9:c.870G>T	ENSP00000351276.5:p.Trp290Cys
ENST00000360144.7:c.603G>T	ENSP00000353262.3:p.Trp201Cys
ENST00000369056.5:c.870G>T	ENSP00000358052.1:p.Trp290Cys
ENST00000369058.7:c.870G>T	ENSP00000358054.3:p.Trp290Cys
ENST00000369059.5:c.525G>T	ENSP00000358055.1:p.Trp175Cys
ENST00000369060.8:c.870G>T	ENSP00000358056.4:p.Trp290Cys
ENST00000369061.8:c.749-4729G>T	ENSP00000358057.4:n.749-4729G>T
ENST00000457416.6:c.870G>T	ENSP00000410294.2:p.Trp290Cys
ENST00000478859.5:c.186G>T	ENSP00000474011.1:p.Trp62Cys
ENST00000490349.5:n.1131G>T
ENST00000604236.5:c.525G>T	ENSP00000474109.1:p.Trp175Cys
ENST00000613048.4:c.603G>T	ENSP00000484154.1:p.Trp201Cys
NM_000141.4:c.870G>T	NP_000132.3:p.Trp290Cys
NM_001144913.1:c.870G>T	NP_001138385.1:p.Trp290Cys
NM_001144914.1:c.749-4729G>T	NP_001138386.1:n.749-4729G>T
NM_001144915.1:c.603G>T	NP_001138387.1:p.Trp201Cys
NM_001144916.1:c.525G>T	NP_001138388.1:p.Trp175Cys
NM_001144917.1:c.870G>T	NP_001138389.1:p.Trp290Cys
NM_001144918.1:c.525G>T	NP_001138390.1:p.Trp175Cys
NM_001144919.1:c.603G>T	NP_001138391.1:p.Trp201Cys
NM_022970.3:c.870G>T	NP_075259.4:p.Trp290Cys
NM_023029.2:c.603G>T	NP_075418.1:p.Trp201Cys
NR_073009.1:n.1172G>T
XM_006717708.2:c.927G>T	XP_006717771.1:p.Trp309Cys
XM_006717709.2:c.927G>T	XP_006717772.1:p.Trp309Cys
XM_006717710.2:c.927G>T	XP_006717773.1:p.Trp309Cys
XM_006717711.2:c.660G>T	XP_006717774.1:p.Trp220Cys
XM_006717712.2:c.582G>T	XP_006717775.1:p.Trp194Cys
XM_006717713.2:c.927G>T	XP_006717776.1:p.Trp309Cys
XM_011539510.1:c.186G>T	XP_011537812.1:p.Trp62Cys
NM_001320654.1:c.186G>T	NP_001307583.1:p.Trp62Cys
NM_001320658.1:c.870G>T	NP_001307587.1:p.Trp290Cys
XM_006717708.3:c.927G>T	XP_006717771.1:p.Trp309Cys
XM_006717710.4:c.927G>T	XP_006717773.1:p.Trp309Cys
XM_017015920.2:c.927G>T	XP_016871409.1:p.Trp309Cys
XM_017015921.2:c.927G>T	XP_016871410.1:p.Trp309Cys
XM_017015924.2:c.582G>T	XP_016871413.1:p.Trp194Cys
XM_017015925.2:c.582G>T	XP_016871414.1:p.Trp194Cys
XM_024447887.1:c.660G>T	XP_024303655.1:p.Trp220Cys
XM_024447888.1:c.660G>T	XP_024303656.1:p.Trp220Cys
XM_024447889.1:c.660G>T	XP_024303657.1:p.Trp220Cys
XM_024447890.1:c.660G>T	XP_024303658.1:p.Trp220Cys
XM_024447891.1:c.582G>T	XP_024303659.1:p.Trp194Cys
XM_024447892.1:c.-301G>T	XP_024303660.1:n.-301G>T
NM_000141.5:c.870G>T MANE Select	NP_000132.3:p.Trp290Cys
NM_001144917.2:c.870G>T	NP_001138389.1:p.Trp290Cys
NM_001144918.2:c.525G>T	NP_001138390.1:p.Trp175Cys
NM_001144919.2:c.603G>T	NP_001138391.1:p.Trp201Cys
NM_001320658.2:c.870G>T	NP_001307587.1:p.Trp290Cys
NR_073009.2:n.1158G>T
NM_001144915.2:c.603G>T	NP_001138387.1:p.Trp201Cys
NM_001144916.2:c.525G>T	NP_001138388.1:p.Trp175Cys
NM_001320654.2:c.186G>T	NP_001307583.1:p.Trp62Cys