Canonical Allele Identifier: CA16043905

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 374824
• ClinVar RCV Id: RCV000415480 ; RCV000731782
• dbSNP Id: rs1057519047
• COSMIC: COSM5010388
• MyVariant Identifiers: chr10:g.123247569T>C (hg19) ; chr10:g.121488055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488055T>C , CM000672.2:g.121488055T>C	GRCh38
NC_000010.10:g.123247569T>C , CM000672.1:g.123247569T>C	GRCh37
NC_000010.9:g.123237559T>C	NCBI36
NG_012449.1:g.115404A>G
NG_012449.2:g.115404A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1925A>G MANE Plus Clinical	ENSP00000410294.2:p.Lys642Arg
ENST00000351936.11:c.1916A>G	ENSP00000309878.10:p.Lys639Arg
ENST00000638709.2:c.746A>G	ENSP00000491912.2:p.Lys249Arg
ENST00000682296.1:n.1264A>G
ENST00000682550.1:c.1571A>G	ENSP00000507633.1:p.Lys524Arg
ENST00000682772.1:c.746A>G	ENSP00000506848.1:p.Lys249Arg
ENST00000682904.1:n.742A>G
ENST00000683029.1:n.334A>G
ENST00000683211.1:c.1916A>G	ENSP00000508257.1:p.Lys639Arg
ENST00000683250.1:c.*624A>G	ENSP00000506847.1:n.*624A>G
ENST00000683418.1:n.4263A>G
ENST00000684153.1:c.1571A>G	ENSP00000506937.1:p.Lys524Arg
ENST00000684516.1:n.2935A>G
ENST00000358487.10:c.1922A>G MANE Select	ENSP00000351276.6:p.Lys641Arg
ENST00000336553.10:c.1649A>G	ENSP00000337665.6:p.Lys550Arg
ENST00000346997.6:c.1916A>G	ENSP00000263451.5:p.Lys639Arg
ENST00000351936.10:c.1922A>G	ENSP00000309878.9:p.Lys641Arg
ENST00000356226.8:c.1571A>G	ENSP00000348559.4:p.Lys524Arg
ENST00000357555.9:c.1655A>G	ENSP00000350166.5:p.Lys552Arg
ENST00000358487.9:c.1922A>G	ENSP00000351276.5:p.Lys641Arg
ENST00000360144.7:c.1658A>G	ENSP00000353262.3:p.Lys553Arg
ENST00000369056.5:c.1925A>G	ENSP00000358052.1:p.Lys642Arg
ENST00000369058.7:c.1925A>G	ENSP00000358054.3:p.Lys642Arg
ENST00000369059.5:c.1580A>G	ENSP00000358055.1:p.Lys527Arg
ENST00000369060.8:c.1574A>G	ENSP00000358056.4:p.Lys525Arg
ENST00000369061.8:c.1586A>G	ENSP00000358057.4:p.Lys529Arg
ENST00000429361.5:c.698A>G	ENSP00000404219.1:p.Lys233Arg
ENST00000457416.6:c.1925A>G	ENSP00000410294.2:p.Lys642Arg
ENST00000478859.5:c.1238A>G	ENSP00000474011.1:p.Lys413Arg
ENST00000604236.5:c.*969A>G	ENSP00000474109.1:n.*969A>G
ENST00000613048.4:c.1655A>G	ENSP00000484154.1:p.Lys552Arg
NM_000141.4:c.1922A>G	NP_000132.3:p.Lys641Arg
NM_001144913.1:c.1925A>G	NP_001138385.1:p.Lys642Arg
NM_001144914.1:c.1586A>G	NP_001138386.1:p.Lys529Arg
NM_001144915.1:c.1655A>G	NP_001138387.1:p.Lys552Arg
NM_001144916.1:c.1577A>G	NP_001138388.1:p.Lys526Arg
NM_001144917.1:c.1574A>G	NP_001138389.1:p.Lys525Arg
NM_001144918.1:c.1571A>G	NP_001138390.1:p.Lys524Arg
NM_001144919.1:c.1658A>G	NP_001138391.1:p.Lys553Arg
NM_022970.3:c.1925A>G	NP_075259.4:p.Lys642Arg
NM_023029.2:c.1655A>G	NP_075418.1:p.Lys552Arg
NR_073009.1:n.2372A>G
XM_006717708.2:c.1976A>G	XP_006717771.1:p.Lys659Arg
XM_006717709.2:c.1973A>G	XP_006717772.1:p.Lys658Arg
XM_006717710.2:c.1982A>G	XP_006717773.1:p.Lys661Arg
XM_006717711.2:c.1715A>G	XP_006717774.1:p.Lys572Arg
XM_006717712.2:c.1637A>G	XP_006717775.1:p.Lys546Arg
XM_006717713.2:c.1979A>G	XP_006717776.1:p.Lys660Arg
XM_011539510.1:c.1238A>G	XP_011537812.1:p.Lys413Arg
NM_001320654.1:c.1238A>G	NP_001307583.1:p.Lys413Arg
NM_001320658.1:c.1916A>G	NP_001307587.1:p.Lys639Arg
XM_006717708.3:c.1976A>G	XP_006717771.1:p.Lys659Arg
XM_006717710.4:c.1982A>G	XP_006717773.1:p.Lys661Arg
XM_017015920.2:c.1976A>G	XP_016871409.1:p.Lys659Arg
XM_017015921.2:c.1973A>G	XP_016871410.1:p.Lys658Arg
XM_017015924.2:c.1634A>G	XP_016871413.1:p.Lys545Arg
XM_017015925.2:c.1628A>G	XP_016871414.1:p.Lys543Arg
XM_024447887.1:c.1712A>G	XP_024303655.1:p.Lys571Arg
XM_024447888.1:c.1709A>G	XP_024303656.1:p.Lys570Arg
XM_024447889.1:c.1706A>G	XP_024303657.1:p.Lys569Arg
XM_024447890.1:c.1715A>G	XP_024303658.1:p.Lys572Arg
XM_024447891.1:c.1637A>G	XP_024303659.1:p.Lys546Arg
XM_024447892.1:c.752A>G	XP_024303660.1:p.Lys251Arg
NM_000141.5:c.1922A>G MANE Select	NP_000132.3:p.Lys641Arg
NM_001144917.2:c.1574A>G	NP_001138389.1:p.Lys525Arg
NM_001144918.2:c.1571A>G	NP_001138390.1:p.Lys524Arg
NM_001144919.2:c.1658A>G	NP_001138391.1:p.Lys553Arg
NM_001320658.2:c.1916A>G	NP_001307587.1:p.Lys639Arg
NR_073009.2:n.2358A>G
NM_001144915.2:c.1655A>G	NP_001138387.1:p.Lys552Arg
NM_001144916.2:c.1577A>G	NP_001138388.1:p.Lys526Arg
NM_001320654.2:c.1238A>G	NP_001307583.1:p.Lys413Arg