Canonical Allele Identifier: CA378326952

Gene: FGFR2

Linked Data

• dbSNP Id: rs1564909172
• gnomAD v4: 10-121515125-G-C
• MyVariant Identifiers: chr10:g.123274639G>C (hg19) ; chr10:g.121515125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515125G>C , CM000672.2:g.121515125G>C	GRCh38
NC_000010.10:g.123274639G>C , CM000672.1:g.123274639G>C	GRCh37
NC_000010.9:g.123264629G>C	NCBI36
NG_012449.1:g.88334C>G
NG_012449.2:g.88334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1282C>G MANE Plus Clinical	ENSP00000410294.2:p.Gln428Glu
ENST00000351936.11:c.1279C>G	ENSP00000309878.10:p.Gln427Glu
ENST00000638709.2:c.109C>G	ENSP00000491912.2:p.Gln37Glu
ENST00000682296.1:n.627C>G
ENST00000682550.1:c.934C>G	ENSP00000507633.1:p.Gln312Glu
ENST00000682772.1:c.109C>G	ENSP00000506848.1:p.Gln37Glu
ENST00000683211.1:c.1279C>G	ENSP00000508257.1:p.Gln427Glu
ENST00000683250.1:c.404-11184C>G	ENSP00000506847.1:n.404-11184C>G
ENST00000683418.1:n.3626C>G
ENST00000684153.1:c.934C>G	ENSP00000506937.1:p.Gln312Glu
ENST00000358487.10:c.1279C>G MANE Select	ENSP00000351276.6:p.Gln427Glu
ENST00000336553.10:c.1012C>G	ENSP00000337665.6:p.Gln338Glu
ENST00000346997.6:c.1279C>G	ENSP00000263451.5:p.Gln427Glu
ENST00000351936.10:c.1285C>G	ENSP00000309878.9:p.Gln429Glu
ENST00000356226.8:c.934C>G	ENSP00000348559.4:p.Gln312Glu
ENST00000357555.9:c.1012C>G	ENSP00000350166.5:p.Gln338Glu
ENST00000358487.9:c.1279C>G	ENSP00000351276.5:p.Gln427Glu
ENST00000360144.7:c.1015C>G	ENSP00000353262.3:p.Gln339Glu
ENST00000369056.5:c.1282C>G	ENSP00000358052.1:p.Gln428Glu
ENST00000369058.7:c.1282C>G	ENSP00000358054.3:p.Gln428Glu
ENST00000369059.5:c.937C>G	ENSP00000358055.1:p.Gln313Glu
ENST00000369060.8:c.939+4854C>G	ENSP00000358056.4:n.939+4854C>G
ENST00000369061.8:c.943C>G	ENSP00000358057.4:p.Gln315Glu
ENST00000429361.5:c.55C>G	ENSP00000404219.1:p.Gln19Glu
ENST00000457416.6:c.1282C>G	ENSP00000410294.2:p.Gln428Glu
ENST00000478859.5:c.595C>G	ENSP00000474011.1:p.Gln199Glu
ENST00000604236.5:c.*326C>G	ENSP00000474109.1:n.*326C>G
ENST00000613048.4:c.1012C>G	ENSP00000484154.1:p.Gln338Glu
NM_000141.4:c.1279C>G	NP_000132.3:p.Gln427Glu
NM_001144913.1:c.1282C>G	NP_001138385.1:p.Gln428Glu
NM_001144914.1:c.943C>G	NP_001138386.1:p.Gln315Glu
NM_001144915.1:c.1012C>G	NP_001138387.1:p.Gln338Glu
NM_001144916.1:c.934C>G	NP_001138388.1:p.Gln312Glu
NM_001144917.1:c.939+4854C>G	NP_001138389.1:n.939+4854C>G
NM_001144918.1:c.934C>G	NP_001138390.1:p.Gln312Glu
NM_001144919.1:c.1015C>G	NP_001138391.1:p.Gln339Glu
NM_022970.3:c.1282C>G	NP_075259.4:p.Gln428Glu
NM_023029.2:c.1012C>G	NP_075418.1:p.Gln338Glu
NR_073009.1:n.1729C>G
XM_006717708.2:c.1339C>G	XP_006717771.1:p.Gln447Glu
XM_006717709.2:c.1336C>G	XP_006717772.1:p.Gln446Glu
XM_006717710.2:c.1339C>G	XP_006717773.1:p.Gln447Glu
XM_006717711.2:c.1072C>G	XP_006717774.1:p.Gln358Glu
XM_006717712.2:c.994C>G	XP_006717775.1:p.Gln332Glu
XM_006717713.2:c.1336C>G	XP_006717776.1:p.Gln446Glu
XM_011539510.1:c.595C>G	XP_011537812.1:p.Gln199Glu
NM_001320654.1:c.595C>G	NP_001307583.1:p.Gln199Glu
NM_001320658.1:c.1279C>G	NP_001307587.1:p.Gln427Glu
XM_006717708.3:c.1339C>G	XP_006717771.1:p.Gln447Glu
XM_006717710.4:c.1339C>G	XP_006717773.1:p.Gln447Glu
XM_017015920.2:c.1339C>G	XP_016871409.1:p.Gln447Glu
XM_017015921.2:c.1336C>G	XP_016871410.1:p.Gln446Glu
XM_017015924.2:c.991C>G	XP_016871413.1:p.Gln331Glu
XM_017015925.2:c.991C>G	XP_016871414.1:p.Gln331Glu
XM_024447887.1:c.1069C>G	XP_024303655.1:p.Gln357Glu
XM_024447888.1:c.1072C>G	XP_024303656.1:p.Gln358Glu
XM_024447889.1:c.1069C>G	XP_024303657.1:p.Gln357Glu
XM_024447890.1:c.1072C>G	XP_024303658.1:p.Gln358Glu
XM_024447891.1:c.994C>G	XP_024303659.1:p.Gln332Glu
XM_024447892.1:c.109C>G	XP_024303660.1:p.Gln37Glu
NM_000141.5:c.1279C>G MANE Select	NP_000132.3:p.Gln427Glu
NM_001144917.2:c.939+4854C>G	NP_001138389.1:n.939+4854C>G
NM_001144918.2:c.934C>G	NP_001138390.1:p.Gln312Glu
NM_001144919.2:c.1015C>G	NP_001138391.1:p.Gln339Glu
NM_001320658.2:c.1279C>G	NP_001307587.1:p.Gln427Glu
NR_073009.2:n.1715C>G
NM_001144915.2:c.1012C>G	NP_001138387.1:p.Gln338Glu
NM_001144916.2:c.934C>G	NP_001138388.1:p.Gln312Glu
NM_001320654.2:c.595C>G	NP_001307583.1:p.Gln199Glu