Canonical Allele Identifier: CA933267091

Gene: FGFR2

Linked Data

• dbSNP Id: rs1820408688
• gnomAD v3: 10-121479805-T-C
• gnomAD v4: 10-121479805-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121479805T>C , CM000672.2:g.121479805T>C	GRCh38
NC_000010.10:g.123239319T>C , CM000672.1:g.123239319T>C	GRCh37
NC_000010.9:g.123229309T>C	NCBI36
NG_012449.1:g.123654A>G
NG_012449.2:g.123654A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.*52A>G MANE Plus Clinical	ENSP00000410294.2:n.*52A>G
ENST00000351936.11:c.*52A>G	ENSP00000309878.10:n.*52A>G
ENST00000638709.2:c.*52A>G	ENSP00000491912.2:n.*52A>G
ENST00000682296.1:n.1860A>G
ENST00000682550.1:c.*52A>G	ENSP00000507633.1:n.*52A>G
ENST00000682772.1:c.*52A>G	ENSP00000506848.1:n.*52A>G
ENST00000682904.1:n.1338A>G
ENST00000683029.1:n.2521A>G
ENST00000683211.1:c.*52A>G	ENSP00000508257.1:n.*52A>G
ENST00000683250.1:c.*2811A>G	ENSP00000506847.1:n.*2811A>G
ENST00000683418.1:n.4859A>G
ENST00000684153.1:c.*246A>G	ENSP00000506937.1:n.*246A>G
ENST00000684516.1:n.3531A>G
ENST00000358487.10:c.*52A>G MANE Select	ENSP00000351276.6:n.*52A>G
ENST00000638709.1:c.505A>G
ENST00000356226.8:c.*52A>G	ENSP00000348559.4:n.*52A>G
ENST00000357555.9:c.2035-135A>G	ENSP00000350166.5:n.2035-135A>G
ENST00000358487.9:c.*52A>G	ENSP00000351276.5:n.*52A>G
ENST00000369059.5:c.*52A>G	ENSP00000358055.1:n.*52A>G
ENST00000369060.8:c.*52A>G	ENSP00000358056.4:n.*52A>G
ENST00000369061.8:c.*52A>G	ENSP00000358057.4:n.*52A>G
ENST00000467584.1:n.477A>G
ENST00000478859.5:c.*52A>G	ENSP00000474011.1:n.*52A>G
ENST00000604236.5:c.*1565A>G	ENSP00000474109.1:n.*1565A>G
ENST00000613048.4:c.*52A>G	ENSP00000484154.1:n.*52A>G
NM_000141.4:c.*52A>G	NP_000132.3:n.*52A>G
NM_001144914.1:c.*52A>G	NP_001138386.1:n.*52A>G
NM_001144915.1:c.2035-135A>G	NP_001138387.1:n.2035-135A>G
NM_001144916.1:c.*52A>G	NP_001138388.1:n.*52A>G
NM_001144917.1:c.*52A>G	NP_001138389.1:n.*52A>G
NM_001144918.1:c.*52A>G	NP_001138390.1:n.*52A>G
NM_022970.3:c.*52A>G	NP_075259.4:n.*52A>G
NM_023029.2:c.*52A>G	NP_075418.1:n.*52A>G
NR_073009.1:n.2968A>G
XM_006717708.2:c.*52A>G	XP_006717771.1:n.*52A>G
XM_006717709.2:c.*52A>G	XP_006717772.1:n.*52A>G
XM_006717711.2:c.*52A>G	XP_006717774.1:n.*52A>G
XM_006717712.2:c.*52A>G	XP_006717775.1:n.*52A>G
XM_011539510.1:c.*52A>G	XP_011537812.1:n.*52A>G
NM_001320654.1:c.*52A>G	NP_001307583.1:n.*52A>G
NM_001320658.1:c.*52A>G	NP_001307587.1:n.*52A>G
XM_006717708.3:c.*52A>G	XP_006717771.1:n.*52A>G
XM_006717710.4:c.*246A>G	XP_006717773.1:n.*246A>G
XM_017015920.2:c.*246A>G	XP_016871409.1:n.*246A>G
XM_017015921.2:c.*246A>G	XP_016871410.1:n.*246A>G
XM_017015924.2:c.*52A>G	XP_016871413.1:n.*52A>G
XM_017015925.2:c.*246A>G	XP_016871414.1:n.*246A>G
XM_024447887.1:c.*52A>G	XP_024303655.1:n.*52A>G
XM_024447888.1:c.*52A>G	XP_024303656.1:n.*52A>G
XM_024447889.1:c.*52A>G	XP_024303657.1:n.*52A>G
XM_024447890.1:c.*52A>G	XP_024303658.1:n.*52A>G
XM_024447891.1:c.*52A>G	XP_024303659.1:n.*52A>G
XM_024447892.1:c.*52A>G	XP_024303660.1:n.*52A>G
NM_000141.5:c.*52A>G MANE Select	NP_000132.3:n.*52A>G
NM_001144917.2:c.*52A>G	NP_001138389.1:n.*52A>G
NM_001144918.2:c.*52A>G	NP_001138390.1:n.*52A>G
NM_001320658.2:c.*52A>G	NP_001307587.1:n.*52A>G
NR_073009.2:n.2954A>G
NM_001144915.2:c.2035-135A>G	NP_001138387.1:n.2035-135A>G
NM_001144916.2:c.*52A>G	NP_001138388.1:n.*52A>G
NM_001320654.2:c.*52A>G	NP_001307583.1:n.*52A>G