Canonical Allele Identifier: CA378314114

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 1698211
• ClinVar RCV Id: RCV002269634 ; RCV003101535
• dbSNP Id: rs1589722765
• COSMIC: COSM49173
• MyVariant Identifiers: chr10:g.123247514C>A (hg19) ; chr10:g.121488000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488000C>A , CM000672.2:g.121488000C>A	GRCh38
NC_000010.10:g.123247514C>A , CM000672.1:g.123247514C>A	GRCh37
NC_000010.9:g.123237504C>A	NCBI36
NG_012449.1:g.115459G>T
NG_012449.2:g.115459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1980G>T MANE Plus Clinical	ENSP00000410294.2:p.Lys660Asn
ENST00000351936.11:c.1971G>T	ENSP00000309878.10:p.Lys657Asn
ENST00000638709.2:c.801G>T	ENSP00000491912.2:p.Lys267Asn
ENST00000682296.1:n.1319G>T
ENST00000682550.1:c.1626G>T	ENSP00000507633.1:p.Lys542Asn
ENST00000682772.1:c.801G>T	ENSP00000506848.1:p.Lys267Asn
ENST00000682904.1:n.797G>T
ENST00000683029.1:n.389G>T
ENST00000683211.1:c.1971G>T	ENSP00000508257.1:p.Lys657Asn
ENST00000683250.1:c.*679G>T	ENSP00000506847.1:n.*679G>T
ENST00000683418.1:n.4318G>T
ENST00000684153.1:c.1626G>T	ENSP00000506937.1:p.Lys542Asn
ENST00000684516.1:n.2990G>T
ENST00000358487.10:c.1977G>T MANE Select	ENSP00000351276.6:p.Lys659Asn
ENST00000336553.10:c.1704G>T	ENSP00000337665.6:p.Lys568Asn
ENST00000346997.6:c.1971G>T	ENSP00000263451.5:p.Lys657Asn
ENST00000351936.10:c.1977G>T	ENSP00000309878.9:p.Lys659Asn
ENST00000356226.8:c.1626G>T	ENSP00000348559.4:p.Lys542Asn
ENST00000357555.9:c.1710G>T	ENSP00000350166.5:p.Lys570Asn
ENST00000358487.9:c.1977G>T	ENSP00000351276.5:p.Lys659Asn
ENST00000360144.7:c.1713G>T	ENSP00000353262.3:p.Lys571Asn
ENST00000369056.5:c.1980G>T	ENSP00000358052.1:p.Lys660Asn
ENST00000369058.7:c.1980G>T	ENSP00000358054.3:p.Lys660Asn
ENST00000369059.5:c.1635G>T	ENSP00000358055.1:p.Lys545Asn
ENST00000369060.8:c.1629G>T	ENSP00000358056.4:p.Lys543Asn
ENST00000369061.8:c.1641G>T	ENSP00000358057.4:p.Lys547Asn
ENST00000429361.5:c.753G>T	ENSP00000404219.1:p.Lys251Asn
ENST00000457416.6:c.1980G>T	ENSP00000410294.2:p.Lys660Asn
ENST00000478859.5:c.1293G>T	ENSP00000474011.1:p.Lys431Asn
ENST00000604236.5:c.*1024G>T	ENSP00000474109.1:n.*1024G>T
ENST00000613048.4:c.1710G>T	ENSP00000484154.1:p.Lys570Asn
NM_000141.4:c.1977G>T	NP_000132.3:p.Lys659Asn
NM_001144913.1:c.1980G>T	NP_001138385.1:p.Lys660Asn
NM_001144914.1:c.1641G>T	NP_001138386.1:p.Lys547Asn
NM_001144915.1:c.1710G>T	NP_001138387.1:p.Lys570Asn
NM_001144916.1:c.1632G>T	NP_001138388.1:p.Lys544Asn
NM_001144917.1:c.1629G>T	NP_001138389.1:p.Lys543Asn
NM_001144918.1:c.1626G>T	NP_001138390.1:p.Lys542Asn
NM_001144919.1:c.1713G>T	NP_001138391.1:p.Lys571Asn
NM_022970.3:c.1980G>T	NP_075259.4:p.Lys660Asn
NM_023029.2:c.1710G>T	NP_075418.1:p.Lys570Asn
NR_073009.1:n.2427G>T
XM_006717708.2:c.2031G>T	XP_006717771.1:p.Lys677Asn
XM_006717709.2:c.2028G>T	XP_006717772.1:p.Lys676Asn
XM_006717710.2:c.2037G>T	XP_006717773.1:p.Lys679Asn
XM_006717711.2:c.1770G>T	XP_006717774.1:p.Lys590Asn
XM_006717712.2:c.1692G>T	XP_006717775.1:p.Lys564Asn
XM_006717713.2:c.2034G>T	XP_006717776.1:p.Lys678Asn
XM_011539510.1:c.1293G>T	XP_011537812.1:p.Lys431Asn
NM_001320654.1:c.1293G>T	NP_001307583.1:p.Lys431Asn
NM_001320658.1:c.1971G>T	NP_001307587.1:p.Lys657Asn
XM_006717708.3:c.2031G>T	XP_006717771.1:p.Lys677Asn
XM_006717710.4:c.2037G>T	XP_006717773.1:p.Lys679Asn
XM_017015920.2:c.2031G>T	XP_016871409.1:p.Lys677Asn
XM_017015921.2:c.2028G>T	XP_016871410.1:p.Lys676Asn
XM_017015924.2:c.1689G>T	XP_016871413.1:p.Lys563Asn
XM_017015925.2:c.1683G>T	XP_016871414.1:p.Lys561Asn
XM_024447887.1:c.1767G>T	XP_024303655.1:p.Lys589Asn
XM_024447888.1:c.1764G>T	XP_024303656.1:p.Lys588Asn
XM_024447889.1:c.1761G>T	XP_024303657.1:p.Lys587Asn
XM_024447890.1:c.1770G>T	XP_024303658.1:p.Lys590Asn
XM_024447891.1:c.1692G>T	XP_024303659.1:p.Lys564Asn
XM_024447892.1:c.807G>T	XP_024303660.1:p.Lys269Asn
NM_000141.5:c.1977G>T MANE Select	NP_000132.3:p.Lys659Asn
NM_001144917.2:c.1629G>T	NP_001138389.1:p.Lys543Asn
NM_001144918.2:c.1626G>T	NP_001138390.1:p.Lys542Asn
NM_001144919.2:c.1713G>T	NP_001138391.1:p.Lys571Asn
NM_001320658.2:c.1971G>T	NP_001307587.1:p.Lys657Asn
NR_073009.2:n.2413G>T
NM_001144915.2:c.1710G>T	NP_001138387.1:p.Lys570Asn
NM_001144916.2:c.1632G>T	NP_001138388.1:p.Lys544Asn
NM_001320654.2:c.1293G>T	NP_001307583.1:p.Lys431Asn