Canonical Allele Identifier: CA378327118

Gene: FGFR2

Linked Data

• dbSNP Id: rs2134224853
• gnomAD v4: 10-121515202-T-C
• MyVariant Identifiers: chr10:g.123274716T>C (hg19) ; chr10:g.121515202T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515202T>C , CM000672.2:g.121515202T>C	GRCh38
NC_000010.10:g.123274716T>C , CM000672.1:g.123274716T>C	GRCh37
NC_000010.9:g.123264706T>C	NCBI36
NG_012449.1:g.88257A>G
NG_012449.2:g.88257A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1205A>G MANE Plus Clinical	ENSP00000410294.2:p.Lys402Arg
ENST00000351936.11:c.1202A>G	ENSP00000309878.10:p.Lys401Arg
ENST00000638709.2:c.32A>G	ENSP00000491912.2:p.Lys11Arg
ENST00000682296.1:n.550A>G
ENST00000682550.1:c.857A>G	ENSP00000507633.1:p.Lys286Arg
ENST00000682772.1:c.32A>G	ENSP00000506848.1:p.Lys11Arg
ENST00000683211.1:c.1202A>G	ENSP00000508257.1:p.Lys401Arg
ENST00000683250.1:c.404-11261A>G	ENSP00000506847.1:n.404-11261A>G
ENST00000683418.1:n.3549A>G
ENST00000684153.1:c.857A>G	ENSP00000506937.1:p.Lys286Arg
ENST00000358487.10:c.1202A>G MANE Select	ENSP00000351276.6:p.Lys401Arg
ENST00000336553.10:c.935A>G	ENSP00000337665.6:p.Lys312Arg
ENST00000346997.6:c.1202A>G	ENSP00000263451.5:p.Lys401Arg
ENST00000351936.10:c.1208A>G	ENSP00000309878.9:p.Lys403Arg
ENST00000356226.8:c.857A>G	ENSP00000348559.4:p.Lys286Arg
ENST00000357555.9:c.935A>G	ENSP00000350166.5:p.Lys312Arg
ENST00000358487.9:c.1202A>G	ENSP00000351276.5:p.Lys401Arg
ENST00000360144.7:c.938A>G	ENSP00000353262.3:p.Lys313Arg
ENST00000369056.5:c.1205A>G	ENSP00000358052.1:p.Lys402Arg
ENST00000369058.7:c.1205A>G	ENSP00000358054.3:p.Lys402Arg
ENST00000369059.5:c.860A>G	ENSP00000358055.1:p.Lys287Arg
ENST00000369060.8:c.939+4777A>G	ENSP00000358056.4:n.939+4777A>G
ENST00000369061.8:c.866A>G	ENSP00000358057.4:p.Lys289Arg
ENST00000457416.6:c.1205A>G	ENSP00000410294.2:p.Lys402Arg
ENST00000478859.5:c.518A>G	ENSP00000474011.1:p.Lys173Arg
ENST00000604236.5:c.*249A>G	ENSP00000474109.1:n.*249A>G
ENST00000613048.4:c.935A>G	ENSP00000484154.1:p.Lys312Arg
NM_000141.4:c.1202A>G	NP_000132.3:p.Lys401Arg
NM_001144913.1:c.1205A>G	NP_001138385.1:p.Lys402Arg
NM_001144914.1:c.866A>G	NP_001138386.1:p.Lys289Arg
NM_001144915.1:c.935A>G	NP_001138387.1:p.Lys312Arg
NM_001144916.1:c.857A>G	NP_001138388.1:p.Lys286Arg
NM_001144917.1:c.939+4777A>G	NP_001138389.1:n.939+4777A>G
NM_001144918.1:c.857A>G	NP_001138390.1:p.Lys286Arg
NM_001144919.1:c.938A>G	NP_001138391.1:p.Lys313Arg
NM_022970.3:c.1205A>G	NP_075259.4:p.Lys402Arg
NM_023029.2:c.935A>G	NP_075418.1:p.Lys312Arg
NR_073009.1:n.1652A>G
XM_006717708.2:c.1262A>G	XP_006717771.1:p.Lys421Arg
XM_006717709.2:c.1259A>G	XP_006717772.1:p.Lys420Arg
XM_006717710.2:c.1262A>G	XP_006717773.1:p.Lys421Arg
XM_006717711.2:c.995A>G	XP_006717774.1:p.Lys332Arg
XM_006717712.2:c.917A>G	XP_006717775.1:p.Lys306Arg
XM_006717713.2:c.1259A>G	XP_006717776.1:p.Lys420Arg
XM_011539510.1:c.518A>G	XP_011537812.1:p.Lys173Arg
NM_001320654.1:c.518A>G	NP_001307583.1:p.Lys173Arg
NM_001320658.1:c.1202A>G	NP_001307587.1:p.Lys401Arg
XM_006717708.3:c.1262A>G	XP_006717771.1:p.Lys421Arg
XM_006717710.4:c.1262A>G	XP_006717773.1:p.Lys421Arg
XM_017015920.2:c.1262A>G	XP_016871409.1:p.Lys421Arg
XM_017015921.2:c.1259A>G	XP_016871410.1:p.Lys420Arg
XM_017015924.2:c.914A>G	XP_016871413.1:p.Lys305Arg
XM_017015925.2:c.914A>G	XP_016871414.1:p.Lys305Arg
XM_024447887.1:c.992A>G	XP_024303655.1:p.Lys331Arg
XM_024447888.1:c.995A>G	XP_024303656.1:p.Lys332Arg
XM_024447889.1:c.992A>G	XP_024303657.1:p.Lys331Arg
XM_024447890.1:c.995A>G	XP_024303658.1:p.Lys332Arg
XM_024447891.1:c.917A>G	XP_024303659.1:p.Lys306Arg
XM_024447892.1:c.32A>G	XP_024303660.1:p.Lys11Arg
NM_000141.5:c.1202A>G MANE Select	NP_000132.3:p.Lys401Arg
NM_001144917.2:c.939+4777A>G	NP_001138389.1:n.939+4777A>G
NM_001144918.2:c.857A>G	NP_001138390.1:p.Lys286Arg
NM_001144919.2:c.938A>G	NP_001138391.1:p.Lys313Arg
NM_001320658.2:c.1202A>G	NP_001307587.1:p.Lys401Arg
NR_073009.2:n.1638A>G
NM_001144915.2:c.935A>G	NP_001138387.1:p.Lys312Arg
NM_001144916.2:c.857A>G	NP_001138388.1:p.Lys286Arg
NM_001320654.2:c.518A>G	NP_001307583.1:p.Lys173Arg