Canonical Allele Identifier: CA280173

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 13271
• ClinVar RCV Id: RCV000014190 ; RCV000626619 ; RCV000655421 ; RCV000726654 ; RCV001823713
• dbSNP Id: rs121918494
• MyVariant Identifiers: chr10:g.123276877G>C (hg19) ; chr10:g.121517363G>C (hg38)
• PubMed: PMID:7874170 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517363G>C , CM000672.2:g.121517363G>C	GRCh38
NC_000010.10:g.123276877G>C , CM000672.1:g.123276877G>C	GRCh37
NC_000010.9:g.123266867G>C	NCBI36
NG_012449.1:g.86096C>G
NG_012449.2:g.86096C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1087+1319C>G MANE Plus Clinical	ENSP00000410294.2:n.1087+1319C>G
ENST00000351936.11:c.1040C>G	ENSP00000309878.10:p.Ser347Cys
ENST00000638709.2:c.-131C>G	ENSP00000491912.2:n.-131C>G
ENST00000682296.1:n.388C>G
ENST00000682400.1:n.695C>G
ENST00000682550.1:c.695C>G	ENSP00000507633.1:p.Ser232Cys
ENST00000682772.1:c.-131C>G	ENSP00000506848.1:n.-131C>G
ENST00000683211.1:c.1040C>G	ENSP00000508257.1:p.Ser347Cys
ENST00000683250.1:c.404-13422C>G	ENSP00000506847.1:n.404-13422C>G
ENST00000683418.1:n.3387C>G
ENST00000683678.1:n.1040C>G
ENST00000684153.1:c.695C>G	ENSP00000506937.1:p.Ser232Cys
ENST00000358487.10:c.1040C>G MANE Select	ENSP00000351276.6:p.Ser347Cys
ENST00000336553.10:c.773C>G	ENSP00000337665.6:p.Ser258Cys
ENST00000346997.6:c.1040C>G	ENSP00000263451.5:p.Ser347Cys
ENST00000351936.10:c.1046C>G	ENSP00000309878.9:p.Ser349Cys
ENST00000356226.8:c.695C>G	ENSP00000348559.4:p.Ser232Cys
ENST00000357555.9:c.773C>G	ENSP00000350166.5:p.Ser258Cys
ENST00000358487.9:c.1040C>G	ENSP00000351276.5:p.Ser347Cys
ENST00000360144.7:c.820+1319C>G	ENSP00000353262.3:n.820+1319C>G
ENST00000369056.5:c.1087+1319C>G	ENSP00000358052.1:n.1087+1319C>G
ENST00000369058.7:c.1087+1319C>G	ENSP00000358054.3:n.1087+1319C>G
ENST00000369059.5:c.742+1319C>G	ENSP00000358055.1:n.742+1319C>G
ENST00000369060.8:c.939+2616C>G	ENSP00000358056.4:n.939+2616C>G
ENST00000369061.8:c.749-2044C>G	ENSP00000358057.4:n.749-2044C>G
ENST00000457416.6:c.1087+1319C>G	ENSP00000410294.2:n.1087+1319C>G
ENST00000463870.5:n.249C>G
ENST00000478859.5:c.356C>G	ENSP00000474011.1:p.Ser119Cys
ENST00000490349.5:n.1449C>G
ENST00000604236.5:c.*87C>G	ENSP00000474109.1:n.*87C>G
ENST00000613048.4:c.773C>G	ENSP00000484154.1:p.Ser258Cys
NM_000141.4:c.1040C>G	NP_000132.3:p.Ser347Cys
NM_001144913.1:c.1087+1319C>G	NP_001138385.1:n.1087+1319C>G
NM_001144914.1:c.749-2044C>G	NP_001138386.1:n.749-2044C>G
NM_001144915.1:c.773C>G	NP_001138387.1:p.Ser258Cys
NM_001144916.1:c.695C>G	NP_001138388.1:p.Ser232Cys
NM_001144917.1:c.939+2616C>G	NP_001138389.1:n.939+2616C>G
NM_001144918.1:c.695C>G	NP_001138390.1:p.Ser232Cys
NM_001144919.1:c.820+1319C>G	NP_001138391.1:n.820+1319C>G
NM_022970.3:c.1087+1319C>G	NP_075259.4:n.1087+1319C>G
NM_023029.2:c.773C>G	NP_075418.1:p.Ser258Cys
NR_073009.1:n.1490C>G
XM_006717708.2:c.1144+1319C>G	XP_006717771.1:n.1144+1319C>G
XM_006717709.2:c.1097C>G	XP_006717772.1:p.Ser366Cys
XM_006717710.2:c.1144+1319C>G	XP_006717773.1:n.1144+1319C>G
XM_006717711.2:c.877+1319C>G	XP_006717774.1:n.877+1319C>G
XM_006717712.2:c.799+1319C>G	XP_006717775.1:n.799+1319C>G
XM_006717713.2:c.1097C>G	XP_006717776.1:p.Ser366Cys
XM_011539510.1:c.356C>G	XP_011537812.1:p.Ser119Cys
NM_001320654.1:c.356C>G	NP_001307583.1:p.Ser119Cys
NM_001320658.1:c.1040C>G	NP_001307587.1:p.Ser347Cys
XM_006717708.3:c.1144+1319C>G	XP_006717771.1:n.1144+1319C>G
XM_006717710.4:c.1144+1319C>G	XP_006717773.1:n.1144+1319C>G
XM_017015920.2:c.1144+1319C>G	XP_016871409.1:n.1144+1319C>G
XM_017015921.2:c.1097C>G	XP_016871410.1:p.Ser366Cys
XM_017015924.2:c.752C>G	XP_016871413.1:p.Ser251Cys
XM_017015925.2:c.752C>G	XP_016871414.1:p.Ser251Cys
XM_024447887.1:c.830C>G	XP_024303655.1:p.Ser277Cys
XM_024447888.1:c.877+1319C>G	XP_024303656.1:n.877+1319C>G
XM_024447889.1:c.830C>G	XP_024303657.1:p.Ser277Cys
XM_024447890.1:c.877+1319C>G	XP_024303658.1:n.877+1319C>G
XM_024447891.1:c.799+1319C>G	XP_024303659.1:n.799+1319C>G
XM_024447892.1:c.-131C>G	XP_024303660.1:n.-131C>G
NM_000141.5:c.1040C>G MANE Select	NP_000132.3:p.Ser347Cys
NM_001144917.2:c.939+2616C>G	NP_001138389.1:n.939+2616C>G
NM_001144918.2:c.695C>G	NP_001138390.1:p.Ser232Cys
NM_001144919.2:c.820+1319C>G	NP_001138391.1:n.820+1319C>G
NM_001320658.2:c.1040C>G	NP_001307587.1:p.Ser347Cys
NR_073009.2:n.1476C>G
NM_001144915.2:c.773C>G	NP_001138387.1:p.Ser258Cys
NM_001144916.2:c.695C>G	NP_001138388.1:p.Ser232Cys
NM_001320654.2:c.356C>G	NP_001307583.1:p.Ser119Cys