Canonical Allele Identifier: CA122996

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 13295
• ClinVar RCV Id: RCV000014221 ; RCV000014220 ; RCV003988821
• dbSNP Id: rs121918507
• MyVariant Identifiers: chr10:g.123258105T>C (hg19) ; chr10:g.121498591T>C (hg38)
• PubMed: PMID:15523492 ; PMID:16061565

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498591T>C , CM000672.2:g.121498591T>C	GRCh38
NC_000010.10:g.123258105T>C , CM000672.1:g.123258105T>C	GRCh37
NC_000010.9:g.123248095T>C	NCBI36
NG_012449.1:g.104868A>G
NG_012449.2:g.104868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1579A>G MANE Plus Clinical	ENSP00000410294.2:p.Lys527Glu
ENST00000351936.11:c.1570A>G	ENSP00000309878.10:p.Lys524Glu
ENST00000638709.2:c.400A>G	ENSP00000491912.2:p.Lys134Glu
ENST00000682296.1:n.918A>G
ENST00000682550.1:c.1225A>G	ENSP00000507633.1:p.Lys409Glu
ENST00000682772.1:c.400A>G	ENSP00000506848.1:p.Lys134Glu
ENST00000682904.1:n.396A>G
ENST00000683211.1:c.1570A>G	ENSP00000508257.1:p.Lys524Glu
ENST00000683250.1:c.*278A>G	ENSP00000506847.1:n.*278A>G
ENST00000683418.1:n.3917A>G
ENST00000684153.1:c.1225A>G	ENSP00000506937.1:p.Lys409Glu
ENST00000684516.1:n.2589A>G
ENST00000358487.10:c.1576A>G MANE Select	ENSP00000351276.6:p.Lys526Glu
ENST00000336553.10:c.1303A>G	ENSP00000337665.6:p.Lys435Glu
ENST00000346997.6:c.1570A>G	ENSP00000263451.5:p.Lys524Glu
ENST00000351936.10:c.1576A>G	ENSP00000309878.9:p.Lys526Glu
ENST00000356226.8:c.1225A>G	ENSP00000348559.4:p.Lys409Glu
ENST00000357555.9:c.1309A>G	ENSP00000350166.5:p.Lys437Glu
ENST00000358487.9:c.1576A>G	ENSP00000351276.5:p.Lys526Glu
ENST00000360144.7:c.1312A>G	ENSP00000353262.3:p.Lys438Glu
ENST00000369056.5:c.1579A>G	ENSP00000358052.1:p.Lys527Glu
ENST00000369058.7:c.1579A>G	ENSP00000358054.3:p.Lys527Glu
ENST00000369059.5:c.1234A>G	ENSP00000358055.1:p.Lys412Glu
ENST00000369060.8:c.1228A>G	ENSP00000358056.4:p.Lys410Glu
ENST00000369061.8:c.1240A>G	ENSP00000358057.4:p.Lys414Glu
ENST00000429361.5:c.352A>G	ENSP00000404219.1:p.Lys118Glu
ENST00000457416.6:c.1579A>G	ENSP00000410294.2:p.Lys527Glu
ENST00000478859.5:c.892A>G	ENSP00000474011.1:p.Lys298Glu
ENST00000604236.5:c.*623A>G	ENSP00000474109.1:n.*623A>G
ENST00000613048.4:c.1309A>G	ENSP00000484154.1:p.Lys437Glu
NM_000141.4:c.1576A>G	NP_000132.3:p.Lys526Glu
NM_001144913.1:c.1579A>G	NP_001138385.1:p.Lys527Glu
NM_001144914.1:c.1240A>G	NP_001138386.1:p.Lys414Glu
NM_001144915.1:c.1309A>G	NP_001138387.1:p.Lys437Glu
NM_001144916.1:c.1231A>G	NP_001138388.1:p.Lys411Glu
NM_001144917.1:c.1228A>G	NP_001138389.1:p.Lys410Glu
NM_001144918.1:c.1225A>G	NP_001138390.1:p.Lys409Glu
NM_001144919.1:c.1312A>G	NP_001138391.1:p.Lys438Glu
NM_022970.3:c.1579A>G	NP_075259.4:p.Lys527Glu
NM_023029.2:c.1309A>G	NP_075418.1:p.Lys437Glu
NR_073009.1:n.2026A>G
XM_006717708.2:c.1630A>G	XP_006717771.1:p.Lys544Glu
XM_006717709.2:c.1627A>G	XP_006717772.1:p.Lys543Glu
XM_006717710.2:c.1636A>G	XP_006717773.1:p.Lys546Glu
XM_006717711.2:c.1369A>G	XP_006717774.1:p.Lys457Glu
XM_006717712.2:c.1291A>G	XP_006717775.1:p.Lys431Glu
XM_006717713.2:c.1633A>G	XP_006717776.1:p.Lys545Glu
XM_011539510.1:c.892A>G	XP_011537812.1:p.Lys298Glu
NM_001320654.1:c.892A>G	NP_001307583.1:p.Lys298Glu
NM_001320658.1:c.1570A>G	NP_001307587.1:p.Lys524Glu
XM_006717708.3:c.1630A>G	XP_006717771.1:p.Lys544Glu
XM_006717710.4:c.1636A>G	XP_006717773.1:p.Lys546Glu
XM_017015920.2:c.1630A>G	XP_016871409.1:p.Lys544Glu
XM_017015921.2:c.1627A>G	XP_016871410.1:p.Lys543Glu
XM_017015924.2:c.1288A>G	XP_016871413.1:p.Lys430Glu
XM_017015925.2:c.1282A>G	XP_016871414.1:p.Lys428Glu
XM_024447887.1:c.1366A>G	XP_024303655.1:p.Lys456Glu
XM_024447888.1:c.1363A>G	XP_024303656.1:p.Lys455Glu
XM_024447889.1:c.1360A>G	XP_024303657.1:p.Lys454Glu
XM_024447890.1:c.1369A>G	XP_024303658.1:p.Lys457Glu
XM_024447891.1:c.1291A>G	XP_024303659.1:p.Lys431Glu
XM_024447892.1:c.406A>G	XP_024303660.1:p.Lys136Glu
NM_000141.5:c.1576A>G MANE Select	NP_000132.3:p.Lys526Glu
NM_001144917.2:c.1228A>G	NP_001138389.1:p.Lys410Glu
NM_001144918.2:c.1225A>G	NP_001138390.1:p.Lys409Glu
NM_001144919.2:c.1312A>G	NP_001138391.1:p.Lys438Glu
NM_001320658.2:c.1570A>G	NP_001307587.1:p.Lys524Glu
NR_073009.2:n.2012A>G
NM_001144915.2:c.1309A>G	NP_001138387.1:p.Lys437Glu
NM_001144916.2:c.1231A>G	NP_001138388.1:p.Lys411Glu
NM_001320654.2:c.892A>G	NP_001307583.1:p.Lys298Glu