Canonical Allele Identifier: CA280195

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 13300
• ClinVar RCV Id: RCV002513039 ; RCV000014227
• dbSNP Id: rs121918510
• MyVariant Identifiers: chr10:g.123276955T>G (hg19) ; chr10:g.121517441T>G (hg38)
• PubMed: PMID:7719333 ; PMID:9586546 ; PMID:15282208

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517441T>G , CM000672.2:g.121517441T>G	GRCh38
NC_000010.10:g.123276955T>G , CM000672.1:g.123276955T>G	GRCh37
NC_000010.9:g.123266945T>G	NCBI36
NG_012449.1:g.86018A>C
NG_012449.2:g.86018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1087+1241A>C MANE Plus Clinical	ENSP00000410294.2:n.1087+1241A>C
ENST00000351936.11:c.962A>C	ENSP00000309878.10:p.Asp321Ala
ENST00000638709.2:c.-209A>C	ENSP00000491912.2:n.-209A>C
ENST00000682296.1:n.310A>C
ENST00000682400.1:n.617A>C
ENST00000682550.1:c.617A>C	ENSP00000507633.1:p.Asp206Ala
ENST00000682772.1:c.-209A>C	ENSP00000506848.1:n.-209A>C
ENST00000683211.1:c.962A>C	ENSP00000508257.1:p.Asp321Ala
ENST00000683250.1:c.404-13500A>C	ENSP00000506847.1:n.404-13500A>C
ENST00000683418.1:n.3309A>C
ENST00000683678.1:n.962A>C
ENST00000684153.1:c.617A>C	ENSP00000506937.1:p.Asp206Ala
ENST00000358487.10:c.962A>C MANE Select	ENSP00000351276.6:p.Asp321Ala
ENST00000336553.10:c.695A>C	ENSP00000337665.6:p.Asp232Ala
ENST00000346997.6:c.962A>C	ENSP00000263451.5:p.Asp321Ala
ENST00000351936.10:c.968A>C	ENSP00000309878.9:p.Asp323Ala
ENST00000356226.8:c.617A>C	ENSP00000348559.4:p.Asp206Ala
ENST00000357555.9:c.695A>C	ENSP00000350166.5:p.Asp232Ala
ENST00000358487.9:c.962A>C	ENSP00000351276.5:p.Asp321Ala
ENST00000360144.7:c.820+1241A>C	ENSP00000353262.3:n.820+1241A>C
ENST00000369056.5:c.1087+1241A>C	ENSP00000358052.1:n.1087+1241A>C
ENST00000369058.7:c.1087+1241A>C	ENSP00000358054.3:n.1087+1241A>C
ENST00000369059.5:c.742+1241A>C	ENSP00000358055.1:n.742+1241A>C
ENST00000369060.8:c.939+2538A>C	ENSP00000358056.4:n.939+2538A>C
ENST00000369061.8:c.749-2122A>C	ENSP00000358057.4:n.749-2122A>C
ENST00000457416.6:c.1087+1241A>C	ENSP00000410294.2:n.1087+1241A>C
ENST00000463870.5:n.171A>C
ENST00000478859.5:c.278A>C	ENSP00000474011.1:p.Asp93Ala
ENST00000490349.5:n.1371A>C
ENST00000604236.5:c.*9A>C	ENSP00000474109.1:n.*9A>C
ENST00000613048.4:c.695A>C	ENSP00000484154.1:p.Asp232Ala
NM_000141.4:c.962A>C	NP_000132.3:p.Asp321Ala
NM_001144913.1:c.1087+1241A>C	NP_001138385.1:n.1087+1241A>C
NM_001144914.1:c.749-2122A>C	NP_001138386.1:n.749-2122A>C
NM_001144915.1:c.695A>C	NP_001138387.1:p.Asp232Ala
NM_001144916.1:c.617A>C	NP_001138388.1:p.Asp206Ala
NM_001144917.1:c.939+2538A>C	NP_001138389.1:n.939+2538A>C
NM_001144918.1:c.617A>C	NP_001138390.1:p.Asp206Ala
NM_001144919.1:c.820+1241A>C	NP_001138391.1:n.820+1241A>C
NM_022970.3:c.1087+1241A>C	NP_075259.4:n.1087+1241A>C
NM_023029.2:c.695A>C	NP_075418.1:p.Asp232Ala
NR_073009.1:n.1412A>C
XM_006717708.2:c.1144+1241A>C	XP_006717771.1:n.1144+1241A>C
XM_006717709.2:c.1019A>C	XP_006717772.1:p.Asp340Ala
XM_006717710.2:c.1144+1241A>C	XP_006717773.1:n.1144+1241A>C
XM_006717711.2:c.877+1241A>C	XP_006717774.1:n.877+1241A>C
XM_006717712.2:c.799+1241A>C	XP_006717775.1:n.799+1241A>C
XM_006717713.2:c.1019A>C	XP_006717776.1:p.Asp340Ala
XM_011539510.1:c.278A>C	XP_011537812.1:p.Asp93Ala
NM_001320654.1:c.278A>C	NP_001307583.1:p.Asp93Ala
NM_001320658.1:c.962A>C	NP_001307587.1:p.Asp321Ala
XM_006717708.3:c.1144+1241A>C	XP_006717771.1:n.1144+1241A>C
XM_006717710.4:c.1144+1241A>C	XP_006717773.1:n.1144+1241A>C
XM_017015920.2:c.1144+1241A>C	XP_016871409.1:n.1144+1241A>C
XM_017015921.2:c.1019A>C	XP_016871410.1:p.Asp340Ala
XM_017015924.2:c.674A>C	XP_016871413.1:p.Asp225Ala
XM_017015925.2:c.674A>C	XP_016871414.1:p.Asp225Ala
XM_024447887.1:c.752A>C	XP_024303655.1:p.Asp251Ala
XM_024447888.1:c.877+1241A>C	XP_024303656.1:n.877+1241A>C
XM_024447889.1:c.752A>C	XP_024303657.1:p.Asp251Ala
XM_024447890.1:c.877+1241A>C	XP_024303658.1:n.877+1241A>C
XM_024447891.1:c.799+1241A>C	XP_024303659.1:n.799+1241A>C
XM_024447892.1:c.-209A>C	XP_024303660.1:n.-209A>C
NM_000141.5:c.962A>C MANE Select	NP_000132.3:p.Asp321Ala
NM_001144917.2:c.939+2538A>C	NP_001138389.1:n.939+2538A>C
NM_001144918.2:c.617A>C	NP_001138390.1:p.Asp206Ala
NM_001144919.2:c.820+1241A>C	NP_001138391.1:n.820+1241A>C
NM_001320658.2:c.962A>C	NP_001307587.1:p.Asp321Ala
NR_073009.2:n.1398A>C
NM_001144915.2:c.695A>C	NP_001138387.1:p.Asp232Ala
NM_001144916.2:c.617A>C	NP_001138388.1:p.Asp206Ala
NM_001320654.2:c.278A>C	NP_001307583.1:p.Asp93Ala