Canonical Allele Identifier: CA10575518

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 13292
• ClinVar RCV Id: RCV000014216
• dbSNP Id: rs1589828632
• PubMed: PMID:9973282 ; PMID:10731087 ; PMID:11479744 ; PMID:11807866 ; PMID:12124745

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517457_121517466delinsGGT , CM000672.2:g.121517457_121517466delinsGGT	GRCh38
NC_000010.10:g.123276971_123276980delinsGGT , CM000672.1:g.123276971_123276980delinsGGT	GRCh37
NC_000010.9:g.123266961_123266970delinsGGT	NCBI36
NG_012449.1:g.85993_86002delinsACC
NG_012449.2:g.85993_86002delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1087+1216_1087+1225delinsACC MANE Plus Clinical	ENSP00000410294.2:n.1087+1216_1087+1225delinsACC
ENST00000351936.11:c.940-3_946delinsACC
ENST00000638709.2:c.-231-3_-225delinsACC
ENST00000682296.1:n.288-3_294delinsACC
ENST00000682400.1:n.595-3_601delinsACC
ENST00000682550.1:c.595-3_601delinsACC
ENST00000682772.1:c.-231-3_-225delinsACC
ENST00000683211.1:c.940-3_946delinsACC
ENST00000683250.1:c.404-13525_404-13516delinsACC	ENSP00000506847.1:n.404-13525_404-13516delinsACC
ENST00000683418.1:n.3287-3_3293delinsACC
ENST00000683678.1:n.940-3_946delinsACC
ENST00000684153.1:c.595-3_601delinsACC
ENST00000358487.10:c.940-3_946delinsACC
ENST00000336553.10:c.673-3_679delinsACC
ENST00000346997.6:c.940-3_946delinsACC
ENST00000351936.10:c.945+1_952delinsACC
ENST00000356226.8:c.595-3_601delinsACC
ENST00000357555.9:c.673-3_679delinsACC
ENST00000358487.9:c.940-3_946delinsACC
ENST00000360144.7:c.820+1216_820+1225delinsACC	ENSP00000353262.3:n.820+1216_820+1225delinsACC
ENST00000369056.5:c.1087+1216_1087+1225delinsACC	ENSP00000358052.1:n.1087+1216_1087+1225delinsACC
ENST00000369058.7:c.1087+1216_1087+1225delinsACC	ENSP00000358054.3:n.1087+1216_1087+1225delinsACC
ENST00000369059.5:c.742+1216_742+1225delinsACC	ENSP00000358055.1:n.742+1216_742+1225delinsACC
ENST00000369060.8:c.939+2513_939+2522delinsACC	ENSP00000358056.4:n.939+2513_939+2522delinsACC
ENST00000369061.8:c.749-2147_749-2138delinsACC	ENSP00000358057.4:n.749-2147_749-2138delinsACC
ENST00000457416.6:c.1087+1216_1087+1225delinsACC	ENSP00000410294.2:n.1087+1216_1087+1225delinsACC
ENST00000463870.5:n.149-3_155delinsACC
ENST00000478859.5:c.256-3_262delinsACC
ENST00000490349.5:n.1349-3_1355delinsACC
ENST00000604236.5:c.743-3_749delinsACC
ENST00000613048.4:c.673-3_679delinsACC
NM_000141.4:c.940-3_946delinsACC
NM_001144913.1:c.1087+1216_1087+1225delinsACC	NP_001138385.1:n.1087+1216_1087+1225delinsACC
NM_001144914.1:c.749-2147_749-2138delinsACC	NP_001138386.1:n.749-2147_749-2138delinsACC
NM_001144915.1:c.673-3_679delinsACC
NM_001144916.1:c.595-3_601delinsACC
NM_001144917.1:c.939+2513_939+2522delinsACC	NP_001138389.1:n.939+2513_939+2522delinsACC
NM_001144918.1:c.595-3_601delinsACC
NM_001144919.1:c.820+1216_820+1225delinsACC	NP_001138391.1:n.820+1216_820+1225delinsACC
NM_022970.3:c.1087+1216_1087+1225delinsACC	NP_075259.4:n.1087+1216_1087+1225delinsACC
NM_023029.2:c.673-3_679delinsACC
NR_073009.1:n.1390-3_1396delinsACC
XM_006717708.2:c.1144+1216_1144+1225delinsACC	XP_006717771.1:n.1144+1216_1144+1225delinsACC
XM_006717709.2:c.997-3_1003delinsACC
XM_006717710.2:c.1144+1216_1144+1225delinsACC	XP_006717773.1:n.1144+1216_1144+1225delinsACC
XM_006717711.2:c.877+1216_877+1225delinsACC	XP_006717774.1:n.877+1216_877+1225delinsACC
XM_006717712.2:c.799+1216_799+1225delinsACC	XP_006717775.1:n.799+1216_799+1225delinsACC
XM_006717713.2:c.997-3_1003delinsACC
XM_011539510.1:c.256-3_262delinsACC
NM_001320654.1:c.256-3_262delinsACC
NM_001320658.1:c.940-3_946delinsACC
XM_006717708.3:c.1144+1216_1144+1225delinsACC	XP_006717771.1:n.1144+1216_1144+1225delinsACC
XM_006717710.4:c.1144+1216_1144+1225delinsACC	XP_006717773.1:n.1144+1216_1144+1225delinsACC
XM_017015920.2:c.1144+1216_1144+1225delinsACC	XP_016871409.1:n.1144+1216_1144+1225delinsACC
XM_017015921.2:c.997-3_1003delinsACC
XM_017015924.2:c.652-3_658delinsACC
XM_017015925.2:c.652-3_658delinsACC
XM_024447887.1:c.730-3_736delinsACC
XM_024447888.1:c.877+1216_877+1225delinsACC	XP_024303656.1:n.877+1216_877+1225delinsACC
XM_024447889.1:c.730-3_736delinsACC
XM_024447890.1:c.877+1216_877+1225delinsACC	XP_024303658.1:n.877+1216_877+1225delinsACC
XM_024447891.1:c.799+1216_799+1225delinsACC	XP_024303659.1:n.799+1216_799+1225delinsACC
XM_024447892.1:c.-231-3_-225delinsACC
NM_000141.5:c.940-3_946delinsACC
NM_001144917.2:c.939+2513_939+2522delinsACC	NP_001138389.1:n.939+2513_939+2522delinsACC
NM_001144918.2:c.595-3_601delinsACC
NM_001144919.2:c.820+1216_820+1225delinsACC	NP_001138391.1:n.820+1216_820+1225delinsACC
NM_001320658.2:c.940-3_946delinsACC
NR_073009.2:n.1376-3_1382delinsACC
NM_001144915.2:c.673-3_679delinsACC
NM_001144916.2:c.595-3_601delinsACC
NM_001320654.2:c.256-3_262delinsACC