Canonical Allele Identifier: CA280168

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 13263
• ClinVar RCV Id: RCV000014173 ; RCV000014174 ; RCV000547490 ; RCV000762801 ; RCV001090933 ; RCV001196204 ; RCV001730471
• dbSNP Id: rs121918487
• MyVariant Identifiers: chr10:g.123276892C>T (hg19) ; chr10:g.121517378C>T (hg38)
• PubMed: PMID:7607643 ; PMID:7719345 ; PMID:7987400 ; PMID:10851026

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517378C>T , CM000672.2:g.121517378C>T	GRCh38
NC_000010.10:g.123276892C>T , CM000672.1:g.123276892C>T	GRCh37
NC_000010.9:g.123266882C>T	NCBI36
NG_012449.1:g.86081G>A
NG_012449.2:g.86081G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1087+1304G>A MANE Plus Clinical	ENSP00000410294.2:n.1087+1304G>A
ENST00000351936.11:c.1025G>A	ENSP00000309878.10:p.Cys342Tyr
ENST00000638709.2:c.-146G>A	ENSP00000491912.2:n.-146G>A
ENST00000682296.1:n.373G>A
ENST00000682400.1:n.680G>A
ENST00000682550.1:c.680G>A	ENSP00000507633.1:p.Cys227Tyr
ENST00000682772.1:c.-146G>A	ENSP00000506848.1:n.-146G>A
ENST00000683211.1:c.1025G>A	ENSP00000508257.1:p.Cys342Tyr
ENST00000683250.1:c.404-13437G>A	ENSP00000506847.1:n.404-13437G>A
ENST00000683418.1:n.3372G>A
ENST00000683678.1:n.1025G>A
ENST00000684153.1:c.680G>A	ENSP00000506937.1:p.Cys227Tyr
ENST00000358487.10:c.1025G>A MANE Select	ENSP00000351276.6:p.Cys342Tyr
ENST00000336553.10:c.758G>A	ENSP00000337665.6:p.Cys253Tyr
ENST00000346997.6:c.1025G>A	ENSP00000263451.5:p.Cys342Tyr
ENST00000351936.10:c.1031G>A	ENSP00000309878.9:p.Cys344Tyr
ENST00000356226.8:c.680G>A	ENSP00000348559.4:p.Cys227Tyr
ENST00000357555.9:c.758G>A	ENSP00000350166.5:p.Cys253Tyr
ENST00000358487.9:c.1025G>A	ENSP00000351276.5:p.Cys342Tyr
ENST00000360144.7:c.820+1304G>A	ENSP00000353262.3:n.820+1304G>A
ENST00000369056.5:c.1087+1304G>A	ENSP00000358052.1:n.1087+1304G>A
ENST00000369058.7:c.1087+1304G>A	ENSP00000358054.3:n.1087+1304G>A
ENST00000369059.5:c.742+1304G>A	ENSP00000358055.1:n.742+1304G>A
ENST00000369060.8:c.939+2601G>A	ENSP00000358056.4:n.939+2601G>A
ENST00000369061.8:c.749-2059G>A	ENSP00000358057.4:n.749-2059G>A
ENST00000457416.6:c.1087+1304G>A	ENSP00000410294.2:n.1087+1304G>A
ENST00000463870.5:n.234G>A
ENST00000478859.5:c.341G>A	ENSP00000474011.1:p.Cys114Tyr
ENST00000490349.5:n.1434G>A
ENST00000604236.5:c.*72G>A	ENSP00000474109.1:n.*72G>A
ENST00000613048.4:c.758G>A	ENSP00000484154.1:p.Cys253Tyr
NM_000141.4:c.1025G>A	NP_000132.3:p.Cys342Tyr
NM_001144913.1:c.1087+1304G>A	NP_001138385.1:n.1087+1304G>A
NM_001144914.1:c.749-2059G>A	NP_001138386.1:n.749-2059G>A
NM_001144915.1:c.758G>A	NP_001138387.1:p.Cys253Tyr
NM_001144916.1:c.680G>A	NP_001138388.1:p.Cys227Tyr
NM_001144917.1:c.939+2601G>A	NP_001138389.1:n.939+2601G>A
NM_001144918.1:c.680G>A	NP_001138390.1:p.Cys227Tyr
NM_001144919.1:c.820+1304G>A	NP_001138391.1:n.820+1304G>A
NM_022970.3:c.1087+1304G>A	NP_075259.4:n.1087+1304G>A
NM_023029.2:c.758G>A	NP_075418.1:p.Cys253Tyr
NR_073009.1:n.1475G>A
XM_006717708.2:c.1144+1304G>A	XP_006717771.1:n.1144+1304G>A
XM_006717709.2:c.1082G>A	XP_006717772.1:p.Cys361Tyr
XM_006717710.2:c.1144+1304G>A	XP_006717773.1:n.1144+1304G>A
XM_006717711.2:c.877+1304G>A	XP_006717774.1:n.877+1304G>A
XM_006717712.2:c.799+1304G>A	XP_006717775.1:n.799+1304G>A
XM_006717713.2:c.1082G>A	XP_006717776.1:p.Cys361Tyr
XM_011539510.1:c.341G>A	XP_011537812.1:p.Cys114Tyr
NM_001320654.1:c.341G>A	NP_001307583.1:p.Cys114Tyr
NM_001320658.1:c.1025G>A	NP_001307587.1:p.Cys342Tyr
XM_006717708.3:c.1144+1304G>A	XP_006717771.1:n.1144+1304G>A
XM_006717710.4:c.1144+1304G>A	XP_006717773.1:n.1144+1304G>A
XM_017015920.2:c.1144+1304G>A	XP_016871409.1:n.1144+1304G>A
XM_017015921.2:c.1082G>A	XP_016871410.1:p.Cys361Tyr
XM_017015924.2:c.737G>A	XP_016871413.1:p.Cys246Tyr
XM_017015925.2:c.737G>A	XP_016871414.1:p.Cys246Tyr
XM_024447887.1:c.815G>A	XP_024303655.1:p.Cys272Tyr
XM_024447888.1:c.877+1304G>A	XP_024303656.1:n.877+1304G>A
XM_024447889.1:c.815G>A	XP_024303657.1:p.Cys272Tyr
XM_024447890.1:c.877+1304G>A	XP_024303658.1:n.877+1304G>A
XM_024447891.1:c.799+1304G>A	XP_024303659.1:n.799+1304G>A
XM_024447892.1:c.-146G>A	XP_024303660.1:n.-146G>A
NM_000141.5:c.1025G>A MANE Select	NP_000132.3:p.Cys342Tyr
NM_001144917.2:c.939+2601G>A	NP_001138389.1:n.939+2601G>A
NM_001144918.2:c.680G>A	NP_001138390.1:p.Cys227Tyr
NM_001144919.2:c.820+1304G>A	NP_001138391.1:n.820+1304G>A
NM_001320658.2:c.1025G>A	NP_001307587.1:p.Cys342Tyr
NR_073009.2:n.1461G>A
NM_001144915.2:c.758G>A	NP_001138387.1:p.Cys253Tyr
NM_001144916.2:c.680G>A	NP_001138388.1:p.Cys227Tyr
NM_001320654.2:c.341G>A	NP_001307583.1:p.Cys114Tyr