Canonical Allele Identifier: CA16602613

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 376156
• ClinVar RCV Id: RCV000434110
• dbSNP Id: rs121913476
• COSMIC: COSM36902 ; COSM427160 ; COSM427161 ; COSM1474414 ; COSM3930931
• MyVariant Identifiers: chr10:g.123258034A>C (hg19) ; chr10:g.121498520A>C (hg38)
• PubMed: PMID:18552176 ; PMID:22238366 ; PMID:23002168 ; PMID:23908597

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498520A>C , CM000672.2:g.121498520A>C	GRCh38
NC_000010.10:g.123258034A>C , CM000672.1:g.123258034A>C	GRCh37
NC_000010.9:g.123248024A>C	NCBI36
NG_012449.1:g.104939T>G
NG_012449.2:g.104939T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1650T>G MANE Plus Clinical	ENSP00000410294.2:p.Asn550Lys
ENST00000351936.11:c.1641T>G	ENSP00000309878.10:p.Asn547Lys
ENST00000638709.2:c.471T>G	ENSP00000491912.2:p.Asn157Lys
ENST00000682296.1:n.989T>G
ENST00000682550.1:c.1296T>G	ENSP00000507633.1:p.Asn432Lys
ENST00000682772.1:c.471T>G	ENSP00000506848.1:p.Asn157Lys
ENST00000682904.1:n.467T>G
ENST00000683211.1:c.1641T>G	ENSP00000508257.1:p.Asn547Lys
ENST00000683250.1:c.*349T>G	ENSP00000506847.1:n.*349T>G
ENST00000683418.1:n.3988T>G
ENST00000684153.1:c.1296T>G	ENSP00000506937.1:p.Asn432Lys
ENST00000684516.1:n.2660T>G
ENST00000358487.10:c.1647T>G MANE Select	ENSP00000351276.6:p.Asn549Lys
ENST00000336553.10:c.1374T>G	ENSP00000337665.6:p.Asn458Lys
ENST00000346997.6:c.1641T>G	ENSP00000263451.5:p.Asn547Lys
ENST00000351936.10:c.1647T>G	ENSP00000309878.9:p.Asn549Lys
ENST00000356226.8:c.1296T>G	ENSP00000348559.4:p.Asn432Lys
ENST00000357555.9:c.1380T>G	ENSP00000350166.5:p.Asn460Lys
ENST00000358487.9:c.1647T>G	ENSP00000351276.5:p.Asn549Lys
ENST00000360144.7:c.1383T>G	ENSP00000353262.3:p.Asn461Lys
ENST00000369056.5:c.1650T>G	ENSP00000358052.1:p.Asn550Lys
ENST00000369058.7:c.1650T>G	ENSP00000358054.3:p.Asn550Lys
ENST00000369059.5:c.1305T>G	ENSP00000358055.1:p.Asn435Lys
ENST00000369060.8:c.1299T>G	ENSP00000358056.4:p.Asn433Lys
ENST00000369061.8:c.1311T>G	ENSP00000358057.4:p.Asn437Lys
ENST00000429361.5:c.423T>G	ENSP00000404219.1:p.Asn141Lys
ENST00000457416.6:c.1650T>G	ENSP00000410294.2:p.Asn550Lys
ENST00000478859.5:c.963T>G	ENSP00000474011.1:p.Asn321Lys
ENST00000604236.5:c.*694T>G	ENSP00000474109.1:n.*694T>G
ENST00000613048.4:c.1380T>G	ENSP00000484154.1:p.Asn460Lys
NM_000141.4:c.1647T>G	NP_000132.3:p.Asn549Lys
NM_001144913.1:c.1650T>G	NP_001138385.1:p.Asn550Lys
NM_001144914.1:c.1311T>G	NP_001138386.1:p.Asn437Lys
NM_001144915.1:c.1380T>G	NP_001138387.1:p.Asn460Lys
NM_001144916.1:c.1302T>G	NP_001138388.1:p.Asn434Lys
NM_001144917.1:c.1299T>G	NP_001138389.1:p.Asn433Lys
NM_001144918.1:c.1296T>G	NP_001138390.1:p.Asn432Lys
NM_001144919.1:c.1383T>G	NP_001138391.1:p.Asn461Lys
NM_022970.3:c.1650T>G	NP_075259.4:p.Asn550Lys
NM_023029.2:c.1380T>G	NP_075418.1:p.Asn460Lys
NR_073009.1:n.2097T>G
XM_006717708.2:c.1701T>G	XP_006717771.1:p.Asn567Lys
XM_006717709.2:c.1698T>G	XP_006717772.1:p.Asn566Lys
XM_006717710.2:c.1707T>G	XP_006717773.1:p.Asn569Lys
XM_006717711.2:c.1440T>G	XP_006717774.1:p.Asn480Lys
XM_006717712.2:c.1362T>G	XP_006717775.1:p.Asn454Lys
XM_006717713.2:c.1704T>G	XP_006717776.1:p.Asn568Lys
XM_011539510.1:c.963T>G	XP_011537812.1:p.Asn321Lys
NM_001320654.1:c.963T>G	NP_001307583.1:p.Asn321Lys
NM_001320658.1:c.1641T>G	NP_001307587.1:p.Asn547Lys
XM_006717708.3:c.1701T>G	XP_006717771.1:p.Asn567Lys
XM_006717710.4:c.1707T>G	XP_006717773.1:p.Asn569Lys
XM_017015920.2:c.1701T>G	XP_016871409.1:p.Asn567Lys
XM_017015921.2:c.1698T>G	XP_016871410.1:p.Asn566Lys
XM_017015924.2:c.1359T>G	XP_016871413.1:p.Asn453Lys
XM_017015925.2:c.1353T>G	XP_016871414.1:p.Asn451Lys
XM_024447887.1:c.1437T>G	XP_024303655.1:p.Asn479Lys
XM_024447888.1:c.1434T>G	XP_024303656.1:p.Asn478Lys
XM_024447889.1:c.1431T>G	XP_024303657.1:p.Asn477Lys
XM_024447890.1:c.1440T>G	XP_024303658.1:p.Asn480Lys
XM_024447891.1:c.1362T>G	XP_024303659.1:p.Asn454Lys
XM_024447892.1:c.477T>G	XP_024303660.1:p.Asn159Lys
NM_000141.5:c.1647T>G MANE Select	NP_000132.3:p.Asn549Lys
NM_001144917.2:c.1299T>G	NP_001138389.1:p.Asn433Lys
NM_001144918.2:c.1296T>G	NP_001138390.1:p.Asn432Lys
NM_001144919.2:c.1383T>G	NP_001138391.1:p.Asn461Lys
NM_001320658.2:c.1641T>G	NP_001307587.1:p.Asn547Lys
NR_073009.2:n.2083T>G
NM_001144915.2:c.1380T>G	NP_001138387.1:p.Asn460Lys
NM_001144916.2:c.1302T>G	NP_001138388.1:p.Asn434Lys
NM_001320654.2:c.963T>G	NP_001307583.1:p.Asn321Lys