Canonical Allele Identifier: CA378327662

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 1406374
• ClinVar RCV Id: RCV001915790
• dbSNP Id: rs2134254345
• MyVariant Identifiers: chr10:g.123276847A>G (hg19) ; chr10:g.121517333A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517333A>G , CM000672.2:g.121517333A>G	GRCh38
NC_000010.10:g.123276847A>G , CM000672.1:g.123276847A>G	GRCh37
NC_000010.9:g.123266837A>G	NCBI36
NG_012449.1:g.86126T>C
NG_012449.2:g.86126T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1087+1349T>C MANE Plus Clinical	ENSP00000410294.2:n.1087+1349T>C
ENST00000351936.11:c.1070T>C	ENSP00000309878.10:p.Leu357Ser
ENST00000638709.2:c.-101T>C	ENSP00000491912.2:n.-101T>C
ENST00000682296.1:n.418T>C
ENST00000682400.1:n.725T>C
ENST00000682550.1:c.725T>C	ENSP00000507633.1:p.Leu242Ser
ENST00000682772.1:c.-101T>C	ENSP00000506848.1:n.-101T>C
ENST00000683211.1:c.1070T>C	ENSP00000508257.1:p.Leu357Ser
ENST00000683250.1:c.404-13392T>C	ENSP00000506847.1:n.404-13392T>C
ENST00000683418.1:n.3417T>C
ENST00000683678.1:n.1070T>C
ENST00000684153.1:c.725T>C	ENSP00000506937.1:p.Leu242Ser
ENST00000358487.10:c.1070T>C MANE Select	ENSP00000351276.6:p.Leu357Ser
ENST00000336553.10:c.803T>C	ENSP00000337665.6:p.Leu268Ser
ENST00000346997.6:c.1070T>C	ENSP00000263451.5:p.Leu357Ser
ENST00000351936.10:c.1076T>C	ENSP00000309878.9:p.Leu359Ser
ENST00000356226.8:c.725T>C	ENSP00000348559.4:p.Leu242Ser
ENST00000357555.9:c.803T>C	ENSP00000350166.5:p.Leu268Ser
ENST00000358487.9:c.1070T>C	ENSP00000351276.5:p.Leu357Ser
ENST00000360144.7:c.820+1349T>C	ENSP00000353262.3:n.820+1349T>C
ENST00000369056.5:c.1087+1349T>C	ENSP00000358052.1:n.1087+1349T>C
ENST00000369058.7:c.1087+1349T>C	ENSP00000358054.3:n.1087+1349T>C
ENST00000369059.5:c.742+1349T>C	ENSP00000358055.1:n.742+1349T>C
ENST00000369060.8:c.939+2646T>C	ENSP00000358056.4:n.939+2646T>C
ENST00000369061.8:c.749-2014T>C	ENSP00000358057.4:n.749-2014T>C
ENST00000457416.6:c.1087+1349T>C	ENSP00000410294.2:n.1087+1349T>C
ENST00000463870.5:n.279T>C
ENST00000478859.5:c.386T>C	ENSP00000474011.1:p.Leu129Ser
ENST00000604236.5:c.*117T>C	ENSP00000474109.1:n.*117T>C
ENST00000613048.4:c.803T>C	ENSP00000484154.1:p.Leu268Ser
NM_000141.4:c.1070T>C	NP_000132.3:p.Leu357Ser
NM_001144913.1:c.1087+1349T>C	NP_001138385.1:n.1087+1349T>C
NM_001144914.1:c.749-2014T>C	NP_001138386.1:n.749-2014T>C
NM_001144915.1:c.803T>C	NP_001138387.1:p.Leu268Ser
NM_001144916.1:c.725T>C	NP_001138388.1:p.Leu242Ser
NM_001144917.1:c.939+2646T>C	NP_001138389.1:n.939+2646T>C
NM_001144918.1:c.725T>C	NP_001138390.1:p.Leu242Ser
NM_001144919.1:c.820+1349T>C	NP_001138391.1:n.820+1349T>C
NM_022970.3:c.1087+1349T>C	NP_075259.4:n.1087+1349T>C
NM_023029.2:c.803T>C	NP_075418.1:p.Leu268Ser
NR_073009.1:n.1520T>C
XM_006717708.2:c.1144+1349T>C	XP_006717771.1:n.1144+1349T>C
XM_006717709.2:c.1127T>C	XP_006717772.1:p.Leu376Ser
XM_006717710.2:c.1144+1349T>C	XP_006717773.1:n.1144+1349T>C
XM_006717711.2:c.877+1349T>C	XP_006717774.1:n.877+1349T>C
XM_006717712.2:c.799+1349T>C	XP_006717775.1:n.799+1349T>C
XM_006717713.2:c.1127T>C	XP_006717776.1:p.Leu376Ser
XM_011539510.1:c.386T>C	XP_011537812.1:p.Leu129Ser
NM_001320654.1:c.386T>C	NP_001307583.1:p.Leu129Ser
NM_001320658.1:c.1070T>C	NP_001307587.1:p.Leu357Ser
XM_006717708.3:c.1144+1349T>C	XP_006717771.1:n.1144+1349T>C
XM_006717710.4:c.1144+1349T>C	XP_006717773.1:n.1144+1349T>C
XM_017015920.2:c.1144+1349T>C	XP_016871409.1:n.1144+1349T>C
XM_017015921.2:c.1127T>C	XP_016871410.1:p.Leu376Ser
XM_017015924.2:c.782T>C	XP_016871413.1:p.Leu261Ser
XM_017015925.2:c.782T>C	XP_016871414.1:p.Leu261Ser
XM_024447887.1:c.860T>C	XP_024303655.1:p.Leu287Ser
XM_024447888.1:c.877+1349T>C	XP_024303656.1:n.877+1349T>C
XM_024447889.1:c.860T>C	XP_024303657.1:p.Leu287Ser
XM_024447890.1:c.877+1349T>C	XP_024303658.1:n.877+1349T>C
XM_024447891.1:c.799+1349T>C	XP_024303659.1:n.799+1349T>C
XM_024447892.1:c.-101T>C	XP_024303660.1:n.-101T>C
NM_000141.5:c.1070T>C MANE Select	NP_000132.3:p.Leu357Ser
NM_001144917.2:c.939+2646T>C	NP_001138389.1:n.939+2646T>C
NM_001144918.2:c.725T>C	NP_001138390.1:p.Leu242Ser
NM_001144919.2:c.820+1349T>C	NP_001138391.1:n.820+1349T>C
NM_001320658.2:c.1070T>C	NP_001307587.1:p.Leu357Ser
NR_073009.2:n.1506T>C
NM_001144915.2:c.803T>C	NP_001138387.1:p.Leu268Ser
NM_001144916.2:c.725T>C	NP_001138388.1:p.Leu242Ser
NM_001320654.2:c.386T>C	NP_001307583.1:p.Leu129Ser