Canonical Allele Identifier: CA378315056

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123247614T>G (hg19) ; chr10:g.121488100T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488100T>G , CM000672.2:g.121488100T>G	GRCh38
NC_000010.10:g.123247614T>G , CM000672.1:g.123247614T>G	GRCh37
NC_000010.9:g.123237604T>G	NCBI36
NG_012449.1:g.115359A>C
NG_012449.2:g.115359A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1880A>C MANE Plus Clinical	ENSP00000410294.2:p.Asp627Ala
ENST00000351936.11:c.1871A>C	ENSP00000309878.10:p.Asp624Ala
ENST00000638709.2:c.701A>C	ENSP00000491912.2:p.Asp234Ala
ENST00000682296.1:n.1219A>C
ENST00000682550.1:c.1526A>C	ENSP00000507633.1:p.Asp509Ala
ENST00000682772.1:c.701A>C	ENSP00000506848.1:p.Asp234Ala
ENST00000682904.1:n.697A>C
ENST00000683029.1:n.289A>C
ENST00000683211.1:c.1871A>C	ENSP00000508257.1:p.Asp624Ala
ENST00000683250.1:c.*579A>C	ENSP00000506847.1:n.*579A>C
ENST00000683418.1:n.4218A>C
ENST00000684153.1:c.1526A>C	ENSP00000506937.1:p.Asp509Ala
ENST00000684516.1:n.2890A>C
ENST00000358487.10:c.1877A>C MANE Select	ENSP00000351276.6:p.Asp626Ala
ENST00000336553.10:c.1604A>C	ENSP00000337665.6:p.Asp535Ala
ENST00000346997.6:c.1871A>C	ENSP00000263451.5:p.Asp624Ala
ENST00000351936.10:c.1877A>C	ENSP00000309878.9:p.Asp626Ala
ENST00000356226.8:c.1526A>C	ENSP00000348559.4:p.Asp509Ala
ENST00000357555.9:c.1610A>C	ENSP00000350166.5:p.Asp537Ala
ENST00000358487.9:c.1877A>C	ENSP00000351276.5:p.Asp626Ala
ENST00000360144.7:c.1613A>C	ENSP00000353262.3:p.Asp538Ala
ENST00000369056.5:c.1880A>C	ENSP00000358052.1:p.Asp627Ala
ENST00000369058.7:c.1880A>C	ENSP00000358054.3:p.Asp627Ala
ENST00000369059.5:c.1535A>C	ENSP00000358055.1:p.Asp512Ala
ENST00000369060.8:c.1529A>C	ENSP00000358056.4:p.Asp510Ala
ENST00000369061.8:c.1541A>C	ENSP00000358057.4:p.Asp514Ala
ENST00000429361.5:c.653A>C	ENSP00000404219.1:p.Asp218Ala
ENST00000457416.6:c.1880A>C	ENSP00000410294.2:p.Asp627Ala
ENST00000478859.5:c.1193A>C	ENSP00000474011.1:p.Asp398Ala
ENST00000604236.5:c.*924A>C	ENSP00000474109.1:n.*924A>C
ENST00000613048.4:c.1610A>C	ENSP00000484154.1:p.Asp537Ala
NM_000141.4:c.1877A>C	NP_000132.3:p.Asp626Ala
NM_001144913.1:c.1880A>C	NP_001138385.1:p.Asp627Ala
NM_001144914.1:c.1541A>C	NP_001138386.1:p.Asp514Ala
NM_001144915.1:c.1610A>C	NP_001138387.1:p.Asp537Ala
NM_001144916.1:c.1532A>C	NP_001138388.1:p.Asp511Ala
NM_001144917.1:c.1529A>C	NP_001138389.1:p.Asp510Ala
NM_001144918.1:c.1526A>C	NP_001138390.1:p.Asp509Ala
NM_001144919.1:c.1613A>C	NP_001138391.1:p.Asp538Ala
NM_022970.3:c.1880A>C	NP_075259.4:p.Asp627Ala
NM_023029.2:c.1610A>C	NP_075418.1:p.Asp537Ala
NR_073009.1:n.2327A>C
XM_006717708.2:c.1931A>C	XP_006717771.1:p.Asp644Ala
XM_006717709.2:c.1928A>C	XP_006717772.1:p.Asp643Ala
XM_006717710.2:c.1937A>C	XP_006717773.1:p.Asp646Ala
XM_006717711.2:c.1670A>C	XP_006717774.1:p.Asp557Ala
XM_006717712.2:c.1592A>C	XP_006717775.1:p.Asp531Ala
XM_006717713.2:c.1934A>C	XP_006717776.1:p.Asp645Ala
XM_011539510.1:c.1193A>C	XP_011537812.1:p.Asp398Ala
NM_001320654.1:c.1193A>C	NP_001307583.1:p.Asp398Ala
NM_001320658.1:c.1871A>C	NP_001307587.1:p.Asp624Ala
XM_006717708.3:c.1931A>C	XP_006717771.1:p.Asp644Ala
XM_006717710.4:c.1937A>C	XP_006717773.1:p.Asp646Ala
XM_017015920.2:c.1931A>C	XP_016871409.1:p.Asp644Ala
XM_017015921.2:c.1928A>C	XP_016871410.1:p.Asp643Ala
XM_017015924.2:c.1589A>C	XP_016871413.1:p.Asp530Ala
XM_017015925.2:c.1583A>C	XP_016871414.1:p.Asp528Ala
XM_024447887.1:c.1667A>C	XP_024303655.1:p.Asp556Ala
XM_024447888.1:c.1664A>C	XP_024303656.1:p.Asp555Ala
XM_024447889.1:c.1661A>C	XP_024303657.1:p.Asp554Ala
XM_024447890.1:c.1670A>C	XP_024303658.1:p.Asp557Ala
XM_024447891.1:c.1592A>C	XP_024303659.1:p.Asp531Ala
XM_024447892.1:c.707A>C	XP_024303660.1:p.Asp236Ala
NM_000141.5:c.1877A>C MANE Select	NP_000132.3:p.Asp626Ala
NM_001144917.2:c.1529A>C	NP_001138389.1:p.Asp510Ala
NM_001144918.2:c.1526A>C	NP_001138390.1:p.Asp509Ala
NM_001144919.2:c.1613A>C	NP_001138391.1:p.Asp538Ala
NM_001320658.2:c.1871A>C	NP_001307587.1:p.Asp624Ala
NR_073009.2:n.2313A>C
NM_001144915.2:c.1610A>C	NP_001138387.1:p.Asp537Ala
NM_001144916.2:c.1532A>C	NP_001138388.1:p.Asp511Ala
NM_001320654.2:c.1193A>C	NP_001307583.1:p.Asp398Ala