Canonical Allele Identifier: CA378328557

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123276967A>G (hg19) ; chr10:g.121517453A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517453A>G , CM000672.2:g.121517453A>G	GRCh38
NC_000010.10:g.123276967A>G , CM000672.1:g.123276967A>G	GRCh37
NC_000010.9:g.123266957A>G	NCBI36
NG_012449.1:g.86006T>C
NG_012449.2:g.86006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1087+1229T>C MANE Plus Clinical	ENSP00000410294.2:n.1087+1229T>C
ENST00000351936.11:c.950T>C	ENSP00000309878.10:p.Val317Ala
ENST00000638709.2:c.-221T>C	ENSP00000491912.2:n.-221T>C
ENST00000682296.1:n.298T>C
ENST00000682400.1:n.605T>C
ENST00000682550.1:c.605T>C	ENSP00000507633.1:p.Val202Ala
ENST00000682772.1:c.-221T>C	ENSP00000506848.1:n.-221T>C
ENST00000683211.1:c.950T>C	ENSP00000508257.1:p.Val317Ala
ENST00000683250.1:c.404-13512T>C	ENSP00000506847.1:n.404-13512T>C
ENST00000683418.1:n.3297T>C
ENST00000683678.1:n.950T>C
ENST00000684153.1:c.605T>C	ENSP00000506937.1:p.Val202Ala
ENST00000358487.10:c.950T>C MANE Select	ENSP00000351276.6:p.Val317Ala
ENST00000336553.10:c.683T>C	ENSP00000337665.6:p.Val228Ala
ENST00000346997.6:c.950T>C	ENSP00000263451.5:p.Val317Ala
ENST00000351936.10:c.956T>C	ENSP00000309878.9:p.Val319Ala
ENST00000356226.8:c.605T>C	ENSP00000348559.4:p.Val202Ala
ENST00000357555.9:c.683T>C	ENSP00000350166.5:p.Val228Ala
ENST00000358487.9:c.950T>C	ENSP00000351276.5:p.Val317Ala
ENST00000360144.7:c.820+1229T>C	ENSP00000353262.3:n.820+1229T>C
ENST00000369056.5:c.1087+1229T>C	ENSP00000358052.1:n.1087+1229T>C
ENST00000369058.7:c.1087+1229T>C	ENSP00000358054.3:n.1087+1229T>C
ENST00000369059.5:c.742+1229T>C	ENSP00000358055.1:n.742+1229T>C
ENST00000369060.8:c.939+2526T>C	ENSP00000358056.4:n.939+2526T>C
ENST00000369061.8:c.749-2134T>C	ENSP00000358057.4:n.749-2134T>C
ENST00000457416.6:c.1087+1229T>C	ENSP00000410294.2:n.1087+1229T>C
ENST00000463870.5:n.159T>C
ENST00000478859.5:c.266T>C	ENSP00000474011.1:p.Val89Ala
ENST00000490349.5:n.1359T>C
ENST00000604236.5:c.753T>C	ENSP00000474109.1:p.Cys251=
ENST00000613048.4:c.683T>C	ENSP00000484154.1:p.Val228Ala
NM_000141.4:c.950T>C	NP_000132.3:p.Val317Ala
NM_001144913.1:c.1087+1229T>C	NP_001138385.1:n.1087+1229T>C
NM_001144914.1:c.749-2134T>C	NP_001138386.1:n.749-2134T>C
NM_001144915.1:c.683T>C	NP_001138387.1:p.Val228Ala
NM_001144916.1:c.605T>C	NP_001138388.1:p.Val202Ala
NM_001144917.1:c.939+2526T>C	NP_001138389.1:n.939+2526T>C
NM_001144918.1:c.605T>C	NP_001138390.1:p.Val202Ala
NM_001144919.1:c.820+1229T>C	NP_001138391.1:n.820+1229T>C
NM_022970.3:c.1087+1229T>C	NP_075259.4:n.1087+1229T>C
NM_023029.2:c.683T>C	NP_075418.1:p.Val228Ala
NR_073009.1:n.1400T>C
XM_006717708.2:c.1144+1229T>C	XP_006717771.1:n.1144+1229T>C
XM_006717709.2:c.1007T>C	XP_006717772.1:p.Val336Ala
XM_006717710.2:c.1144+1229T>C	XP_006717773.1:n.1144+1229T>C
XM_006717711.2:c.877+1229T>C	XP_006717774.1:n.877+1229T>C
XM_006717712.2:c.799+1229T>C	XP_006717775.1:n.799+1229T>C
XM_006717713.2:c.1007T>C	XP_006717776.1:p.Val336Ala
XM_011539510.1:c.266T>C	XP_011537812.1:p.Val89Ala
NM_001320654.1:c.266T>C	NP_001307583.1:p.Val89Ala
NM_001320658.1:c.950T>C	NP_001307587.1:p.Val317Ala
XM_006717708.3:c.1144+1229T>C	XP_006717771.1:n.1144+1229T>C
XM_006717710.4:c.1144+1229T>C	XP_006717773.1:n.1144+1229T>C
XM_017015920.2:c.1144+1229T>C	XP_016871409.1:n.1144+1229T>C
XM_017015921.2:c.1007T>C	XP_016871410.1:p.Val336Ala
XM_017015924.2:c.662T>C	XP_016871413.1:p.Val221Ala
XM_017015925.2:c.662T>C	XP_016871414.1:p.Val221Ala
XM_024447887.1:c.740T>C	XP_024303655.1:p.Val247Ala
XM_024447888.1:c.877+1229T>C	XP_024303656.1:n.877+1229T>C
XM_024447889.1:c.740T>C	XP_024303657.1:p.Val247Ala
XM_024447890.1:c.877+1229T>C	XP_024303658.1:n.877+1229T>C
XM_024447891.1:c.799+1229T>C	XP_024303659.1:n.799+1229T>C
XM_024447892.1:c.-221T>C	XP_024303660.1:n.-221T>C
NM_000141.5:c.950T>C MANE Select	NP_000132.3:p.Val317Ala
NM_001144917.2:c.939+2526T>C	NP_001138389.1:n.939+2526T>C
NM_001144918.2:c.605T>C	NP_001138390.1:p.Val202Ala
NM_001144919.2:c.820+1229T>C	NP_001138391.1:n.820+1229T>C
NM_001320658.2:c.950T>C	NP_001307587.1:p.Val317Ala
NR_073009.2:n.1386T>C
NM_001144915.2:c.683T>C	NP_001138387.1:p.Val228Ala
NM_001144916.2:c.605T>C	NP_001138388.1:p.Val202Ala
NM_001320654.2:c.266T>C	NP_001307583.1:p.Val89Ala