Canonical Allele Identifier: CA658797546

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 520630
• ClinVar RCV Id: RCV000623520
• dbSNP Id: rs1554928978
• MyVariant Identifiers: chr10:g.123276939_123277142del (hg19) ; chr10:g.121517425_121517628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517428_121517631del , CM000672.2:g.121517428_121517631del	GRCh38
NC_000010.10:g.123276942_123277145del , CM000672.1:g.123276942_123277145del	GRCh37
NC_000010.9:g.123266932_123267135del	NCBI36
NG_012449.1:g.85831_86034del
NG_012449.2:g.85831_86034del

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1087+1054_1087+1257del MANE Plus Clinical	ENSP00000410294.2:n.1087+1054_1087+1257del
ENST00000351936.11:c.940-165_978del
ENST00000638709.2:c.-231-165_-193del
ENST00000682296.1:n.288-165_326del
ENST00000682400.1:n.595-165_633del
ENST00000682550.1:c.595-165_633del
ENST00000682772.1:c.-231-165_-193del
ENST00000683211.1:c.940-165_978del
ENST00000683250.1:c.404-13687_404-13484del	ENSP00000506847.1:n.404-13687_404-13484del
ENST00000683418.1:n.3287-165_3325del
ENST00000683678.1:n.940-165_978del
ENST00000684153.1:c.595-165_633del
ENST00000358487.10:c.940-165_978del
ENST00000336553.10:c.673-165_711del
ENST00000346997.6:c.940-165_978del
ENST00000351936.10:c.940-156_984del
ENST00000356226.8:c.595-165_633del
ENST00000357555.9:c.673-165_711del
ENST00000358487.9:c.940-165_978del
ENST00000360144.7:c.820+1054_820+1257del	ENSP00000353262.3:n.820+1054_820+1257del
ENST00000369056.5:c.1087+1054_1087+1257del	ENSP00000358052.1:n.1087+1054_1087+1257del
ENST00000369058.7:c.1087+1054_1087+1257del	ENSP00000358054.3:n.1087+1054_1087+1257del
ENST00000369059.5:c.742+1054_742+1257del	ENSP00000358055.1:n.742+1054_742+1257del
ENST00000369060.8:c.939+2351_939+2554del	ENSP00000358056.4:n.939+2351_939+2554del
ENST00000369061.8:c.749-2309_749-2106del	ENSP00000358057.4:n.749-2309_749-2106del
ENST00000457416.6:c.1087+1054_1087+1257del	ENSP00000410294.2:n.1087+1054_1087+1257del
ENST00000463870.5:n.149-165_187del
ENST00000478859.5:c.256-165_294del
ENST00000490349.5:n.1349-165_1387del
ENST00000604236.5:c.743-165_*25del
ENST00000613048.4:c.673-165_711del
NM_000141.4:c.940-165_978del
NM_001144913.1:c.1087+1054_1087+1257del	NP_001138385.1:n.1087+1054_1087+1257del
NM_001144914.1:c.749-2309_749-2106del	NP_001138386.1:n.749-2309_749-2106del
NM_001144915.1:c.673-165_711del
NM_001144916.1:c.595-165_633del
NM_001144917.1:c.939+2351_939+2554del	NP_001138389.1:n.939+2351_939+2554del
NM_001144918.1:c.595-165_633del
NM_001144919.1:c.820+1054_820+1257del	NP_001138391.1:n.820+1054_820+1257del
NM_022970.3:c.1087+1054_1087+1257del	NP_075259.4:n.1087+1054_1087+1257del
NM_023029.2:c.673-165_711del
NR_073009.1:n.1390-165_1428del
XM_006717708.2:c.1144+1054_1144+1257del	XP_006717771.1:n.1144+1054_1144+1257del
XM_006717709.2:c.997-165_1035del
XM_006717710.2:c.1144+1054_1144+1257del	XP_006717773.1:n.1144+1054_1144+1257del
XM_006717711.2:c.877+1054_877+1257del	XP_006717774.1:n.877+1054_877+1257del
XM_006717712.2:c.799+1054_799+1257del	XP_006717775.1:n.799+1054_799+1257del
XM_006717713.2:c.997-165_1035del
XM_011539510.1:c.256-165_294del
NM_001320654.1:c.256-165_294del
NM_001320658.1:c.940-165_978del
XM_006717708.3:c.1144+1054_1144+1257del	XP_006717771.1:n.1144+1054_1144+1257del
XM_006717710.4:c.1144+1054_1144+1257del	XP_006717773.1:n.1144+1054_1144+1257del
XM_017015920.2:c.1144+1054_1144+1257del	XP_016871409.1:n.1144+1054_1144+1257del
XM_017015921.2:c.997-165_1035del
XM_017015924.2:c.652-165_690del
XM_017015925.2:c.652-165_690del
XM_024447887.1:c.730-165_768del
XM_024447888.1:c.877+1054_877+1257del	XP_024303656.1:n.877+1054_877+1257del
XM_024447889.1:c.730-165_768del
XM_024447890.1:c.877+1054_877+1257del	XP_024303658.1:n.877+1054_877+1257del
XM_024447891.1:c.799+1054_799+1257del	XP_024303659.1:n.799+1054_799+1257del
XM_024447892.1:c.-231-165_-193del
NM_000141.5:c.940-165_978del
NM_001144917.2:c.939+2351_939+2554del	NP_001138389.1:n.939+2351_939+2554del
NM_001144918.2:c.595-165_633del
NM_001144919.2:c.820+1054_820+1257del	NP_001138391.1:n.820+1054_820+1257del
NM_001320658.2:c.940-165_978del
NR_073009.2:n.1376-165_1414del
NM_001144915.2:c.673-165_711del
NM_001144916.2:c.595-165_633del
NM_001320654.2:c.256-165_294del