Canonical Allele Identifier: CA10634799

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 298987
• ClinVar RCV Id: RCV000277795 ; RCV000297017 ; RCV000329454 ; RCV000368887 ; RCV000370031
• dbSNP Id: rs3135827
• gnomAD v4: 10-121479360-A-G
• MyVariant Identifiers: chr10:g.123238874A>G (hg19) ; chr10:g.121479360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121479360A>G , CM000672.2:g.121479360A>G	GRCh38
NC_000010.10:g.123238874A>G , CM000672.1:g.123238874A>G	GRCh37
NC_000010.9:g.123228864A>G	NCBI36
NG_012449.1:g.124099T>C
NG_012449.2:g.124099T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.*497T>C MANE Plus Clinical	ENSP00000410294.2:n.*497T>C
ENST00000351936.11:c.*497T>C	ENSP00000309878.10:n.*497T>C
ENST00000638709.2:c.*497T>C	ENSP00000491912.2:n.*497T>C
ENST00000682296.1:n.2305T>C
ENST00000682550.1:c.*497T>C	ENSP00000507633.1:n.*497T>C
ENST00000682772.1:c.*497T>C	ENSP00000506848.1:n.*497T>C
ENST00000682904.1:n.1783T>C
ENST00000683029.1:n.2966T>C
ENST00000683211.1:c.*497T>C	ENSP00000508257.1:n.*497T>C
ENST00000683250.1:c.*3256T>C	ENSP00000506847.1:n.*3256T>C
ENST00000683418.1:n.5304T>C
ENST00000684153.1:c.*691T>C	ENSP00000506937.1:n.*691T>C
ENST00000684516.1:n.3976T>C
ENST00000358487.10:c.*497T>C MANE Select	ENSP00000351276.6:n.*497T>C
ENST00000638709.1:c.950T>C
ENST00000356226.8:c.*497T>C	ENSP00000348559.4:n.*497T>C
ENST00000357555.9:c.*221T>C	ENSP00000350166.5:n.*221T>C
ENST00000358487.9:c.*497T>C	ENSP00000351276.5:n.*497T>C
ENST00000369060.8:c.*497T>C	ENSP00000358056.4:n.*497T>C
ENST00000369061.8:c.*497T>C	ENSP00000358057.4:n.*497T>C
ENST00000478859.5:c.*497T>C	ENSP00000474011.1:n.*497T>C
ENST00000604236.5:c.*2010T>C	ENSP00000474109.1:n.*2010T>C
ENST00000613048.4:c.*497T>C	ENSP00000484154.1:n.*497T>C
NM_000141.4:c.*497T>C	NP_000132.3:n.*497T>C
NM_001144914.1:c.*497T>C	NP_001138386.1:n.*497T>C
NM_001144915.1:c.*221T>C	NP_001138387.1:n.*221T>C
NM_001144916.1:c.*497T>C	NP_001138388.1:n.*497T>C
NM_001144917.1:c.*497T>C	NP_001138389.1:n.*497T>C
NM_001144918.1:c.*497T>C	NP_001138390.1:n.*497T>C
NM_022970.3:c.*497T>C	NP_075259.4:n.*497T>C
NM_023029.2:c.*497T>C	NP_075418.1:n.*497T>C
NR_073009.1:n.3413T>C
XM_006717708.2:c.*497T>C	XP_006717771.1:n.*497T>C
XM_006717709.2:c.*497T>C	XP_006717772.1:n.*497T>C
XM_006717711.2:c.*497T>C	XP_006717774.1:n.*497T>C
XM_006717712.2:c.*497T>C	XP_006717775.1:n.*497T>C
XM_011539510.1:c.*497T>C	XP_011537812.1:n.*497T>C
NM_001320654.1:c.*497T>C	NP_001307583.1:n.*497T>C
NM_001320658.1:c.*497T>C	NP_001307587.1:n.*497T>C
XM_006717708.3:c.*497T>C	XP_006717771.1:n.*497T>C
XM_006717710.4:c.*691T>C	XP_006717773.1:n.*691T>C
XM_017015920.2:c.*691T>C	XP_016871409.1:n.*691T>C
XM_017015921.2:c.*691T>C	XP_016871410.1:n.*691T>C
XM_017015924.2:c.*497T>C	XP_016871413.1:n.*497T>C
XM_017015925.2:c.*691T>C	XP_016871414.1:n.*691T>C
XM_024447887.1:c.*497T>C	XP_024303655.1:n.*497T>C
XM_024447888.1:c.*497T>C	XP_024303656.1:n.*497T>C
XM_024447889.1:c.*497T>C	XP_024303657.1:n.*497T>C
XM_024447890.1:c.*497T>C	XP_024303658.1:n.*497T>C
XM_024447891.1:c.*497T>C	XP_024303659.1:n.*497T>C
XM_024447892.1:c.*497T>C	XP_024303660.1:n.*497T>C
NM_000141.5:c.*497T>C MANE Select	NP_000132.3:n.*497T>C
NM_001144917.2:c.*497T>C	NP_001138389.1:n.*497T>C
NM_001144918.2:c.*497T>C	NP_001138390.1:n.*497T>C
NM_001320658.2:c.*497T>C	NP_001307587.1:n.*497T>C
NR_073009.2:n.3399T>C
NM_001144915.2:c.*221T>C	NP_001138387.1:n.*221T>C
NM_001144916.2:c.*497T>C	NP_001138388.1:n.*497T>C
NM_001320654.2:c.*497T>C	NP_001307583.1:n.*497T>C