Canonical Allele Identifier: CA378327106

Gene: FGFR2

Linked Data

• dbSNP Id: rs2134224492
• gnomAD v4: 10-121515197-T-G
• MyVariant Identifiers: chr10:g.123274711T>G (hg19) ; chr10:g.121515197T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515197T>G , CM000672.2:g.121515197T>G	GRCh38
NC_000010.10:g.123274711T>G , CM000672.1:g.123274711T>G	GRCh37
NC_000010.9:g.123264701T>G	NCBI36
NG_012449.1:g.88262A>C
NG_012449.2:g.88262A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1210A>C MANE Plus Clinical	ENSP00000410294.2:p.Thr404Pro
ENST00000351936.11:c.1207A>C	ENSP00000309878.10:p.Thr403Pro
ENST00000638709.2:c.37A>C	ENSP00000491912.2:p.Thr13Pro
ENST00000682296.1:n.555A>C
ENST00000682550.1:c.862A>C	ENSP00000507633.1:p.Thr288Pro
ENST00000682772.1:c.37A>C	ENSP00000506848.1:p.Thr13Pro
ENST00000683211.1:c.1207A>C	ENSP00000508257.1:p.Thr403Pro
ENST00000683250.1:c.404-11256A>C	ENSP00000506847.1:n.404-11256A>C
ENST00000683418.1:n.3554A>C
ENST00000684153.1:c.862A>C	ENSP00000506937.1:p.Thr288Pro
ENST00000358487.10:c.1207A>C MANE Select	ENSP00000351276.6:p.Thr403Pro
ENST00000336553.10:c.940A>C	ENSP00000337665.6:p.Thr314Pro
ENST00000346997.6:c.1207A>C	ENSP00000263451.5:p.Thr403Pro
ENST00000351936.10:c.1213A>C	ENSP00000309878.9:p.Thr405Pro
ENST00000356226.8:c.862A>C	ENSP00000348559.4:p.Thr288Pro
ENST00000357555.9:c.940A>C	ENSP00000350166.5:p.Thr314Pro
ENST00000358487.9:c.1207A>C	ENSP00000351276.5:p.Thr403Pro
ENST00000360144.7:c.943A>C	ENSP00000353262.3:p.Thr315Pro
ENST00000369056.5:c.1210A>C	ENSP00000358052.1:p.Thr404Pro
ENST00000369058.7:c.1210A>C	ENSP00000358054.3:p.Thr404Pro
ENST00000369059.5:c.865A>C	ENSP00000358055.1:p.Thr289Pro
ENST00000369060.8:c.939+4782A>C	ENSP00000358056.4:n.939+4782A>C
ENST00000369061.8:c.871A>C	ENSP00000358057.4:p.Thr291Pro
ENST00000457416.6:c.1210A>C	ENSP00000410294.2:p.Thr404Pro
ENST00000478859.5:c.523A>C	ENSP00000474011.1:p.Thr175Pro
ENST00000604236.5:c.*254A>C	ENSP00000474109.1:n.*254A>C
ENST00000613048.4:c.940A>C	ENSP00000484154.1:p.Thr314Pro
NM_000141.4:c.1207A>C	NP_000132.3:p.Thr403Pro
NM_001144913.1:c.1210A>C	NP_001138385.1:p.Thr404Pro
NM_001144914.1:c.871A>C	NP_001138386.1:p.Thr291Pro
NM_001144915.1:c.940A>C	NP_001138387.1:p.Thr314Pro
NM_001144916.1:c.862A>C	NP_001138388.1:p.Thr288Pro
NM_001144917.1:c.939+4782A>C	NP_001138389.1:n.939+4782A>C
NM_001144918.1:c.862A>C	NP_001138390.1:p.Thr288Pro
NM_001144919.1:c.943A>C	NP_001138391.1:p.Thr315Pro
NM_022970.3:c.1210A>C	NP_075259.4:p.Thr404Pro
NM_023029.2:c.940A>C	NP_075418.1:p.Thr314Pro
NR_073009.1:n.1657A>C
XM_006717708.2:c.1267A>C	XP_006717771.1:p.Thr423Pro
XM_006717709.2:c.1264A>C	XP_006717772.1:p.Thr422Pro
XM_006717710.2:c.1267A>C	XP_006717773.1:p.Thr423Pro
XM_006717711.2:c.1000A>C	XP_006717774.1:p.Thr334Pro
XM_006717712.2:c.922A>C	XP_006717775.1:p.Thr308Pro
XM_006717713.2:c.1264A>C	XP_006717776.1:p.Thr422Pro
XM_011539510.1:c.523A>C	XP_011537812.1:p.Thr175Pro
NM_001320654.1:c.523A>C	NP_001307583.1:p.Thr175Pro
NM_001320658.1:c.1207A>C	NP_001307587.1:p.Thr403Pro
XM_006717708.3:c.1267A>C	XP_006717771.1:p.Thr423Pro
XM_006717710.4:c.1267A>C	XP_006717773.1:p.Thr423Pro
XM_017015920.2:c.1267A>C	XP_016871409.1:p.Thr423Pro
XM_017015921.2:c.1264A>C	XP_016871410.1:p.Thr422Pro
XM_017015924.2:c.919A>C	XP_016871413.1:p.Thr307Pro
XM_017015925.2:c.919A>C	XP_016871414.1:p.Thr307Pro
XM_024447887.1:c.997A>C	XP_024303655.1:p.Thr333Pro
XM_024447888.1:c.1000A>C	XP_024303656.1:p.Thr334Pro
XM_024447889.1:c.997A>C	XP_024303657.1:p.Thr333Pro
XM_024447890.1:c.1000A>C	XP_024303658.1:p.Thr334Pro
XM_024447891.1:c.922A>C	XP_024303659.1:p.Thr308Pro
XM_024447892.1:c.37A>C	XP_024303660.1:p.Thr13Pro
NM_000141.5:c.1207A>C MANE Select	NP_000132.3:p.Thr403Pro
NM_001144917.2:c.939+4782A>C	NP_001138389.1:n.939+4782A>C
NM_001144918.2:c.862A>C	NP_001138390.1:p.Thr288Pro
NM_001144919.2:c.943A>C	NP_001138391.1:p.Thr315Pro
NM_001320658.2:c.1207A>C	NP_001307587.1:p.Thr403Pro
NR_073009.2:n.1643A>C
NM_001144915.2:c.940A>C	NP_001138387.1:p.Thr314Pro
NM_001144916.2:c.862A>C	NP_001138388.1:p.Thr288Pro
NM_001320654.2:c.523A>C	NP_001307583.1:p.Thr175Pro