Canonical Allele Identifier: CA5720417

Gene: FGFR2

Linked Data

• dbSNP Id: rs760012289
• ExAC: 10:123239102 T / G
• gnomAD v4: 10-121479588-T-G
• MyVariant Identifiers: chr10:g.123239102T>G (hg19) ; chr10:g.121479588T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121479588T>G , CM000672.2:g.121479588T>G	GRCh38
NC_000010.10:g.123239102T>G , CM000672.1:g.123239102T>G	GRCh37
NC_000010.9:g.123229092T>G	NCBI36
NG_012449.1:g.123871A>C
NG_012449.2:g.123871A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.*269A>C MANE Plus Clinical	ENSP00000410294.2:n.*269A>C
ENST00000351936.11:c.*269A>C	ENSP00000309878.10:n.*269A>C
ENST00000638709.2:c.*269A>C	ENSP00000491912.2:n.*269A>C
ENST00000682296.1:n.2077A>C
ENST00000682550.1:c.*269A>C	ENSP00000507633.1:n.*269A>C
ENST00000682772.1:c.*269A>C	ENSP00000506848.1:n.*269A>C
ENST00000682904.1:n.1555A>C
ENST00000683029.1:n.2738A>C
ENST00000683211.1:c.*269A>C	ENSP00000508257.1:n.*269A>C
ENST00000683250.1:c.*3028A>C	ENSP00000506847.1:n.*3028A>C
ENST00000683418.1:n.5076A>C
ENST00000684153.1:c.*463A>C	ENSP00000506937.1:n.*463A>C
ENST00000684516.1:n.3748A>C
ENST00000358487.10:c.*269A>C MANE Select	ENSP00000351276.6:n.*269A>C
ENST00000638709.1:c.722A>C
ENST00000356226.8:c.*269A>C	ENSP00000348559.4:n.*269A>C
ENST00000357555.9:c.2117A>C	ENSP00000350166.5:p.Asp706Ala
ENST00000358487.9:c.*269A>C	ENSP00000351276.5:n.*269A>C
ENST00000369060.8:c.*269A>C	ENSP00000358056.4:n.*269A>C
ENST00000369061.8:c.*269A>C	ENSP00000358057.4:n.*269A>C
ENST00000478859.5:c.*269A>C	ENSP00000474011.1:n.*269A>C
ENST00000604236.5:c.*1782A>C	ENSP00000474109.1:n.*1782A>C
ENST00000613048.4:c.*269A>C	ENSP00000484154.1:n.*269A>C
NM_000141.4:c.*269A>C	NP_000132.3:n.*269A>C
NM_001144914.1:c.*269A>C	NP_001138386.1:n.*269A>C
NM_001144915.1:c.2117A>C	NP_001138387.1:p.Asp706Ala
NM_001144916.1:c.*269A>C	NP_001138388.1:n.*269A>C
NM_001144917.1:c.*269A>C	NP_001138389.1:n.*269A>C
NM_001144918.1:c.*269A>C	NP_001138390.1:n.*269A>C
NM_022970.3:c.*269A>C	NP_075259.4:n.*269A>C
NM_023029.2:c.*269A>C	NP_075418.1:n.*269A>C
NR_073009.1:n.3185A>C
XM_006717708.2:c.*269A>C	XP_006717771.1:n.*269A>C
XM_006717709.2:c.*269A>C	XP_006717772.1:n.*269A>C
XM_006717711.2:c.*269A>C	XP_006717774.1:n.*269A>C
XM_006717712.2:c.*269A>C	XP_006717775.1:n.*269A>C
XM_011539510.1:c.*269A>C	XP_011537812.1:n.*269A>C
NM_001320654.1:c.*269A>C	NP_001307583.1:n.*269A>C
NM_001320658.1:c.*269A>C	NP_001307587.1:n.*269A>C
XM_006717708.3:c.*269A>C	XP_006717771.1:n.*269A>C
XM_006717710.4:c.*463A>C	XP_006717773.1:n.*463A>C
XM_017015920.2:c.*463A>C	XP_016871409.1:n.*463A>C
XM_017015921.2:c.*463A>C	XP_016871410.1:n.*463A>C
XM_017015924.2:c.*269A>C	XP_016871413.1:n.*269A>C
XM_017015925.2:c.*463A>C	XP_016871414.1:n.*463A>C
XM_024447887.1:c.*269A>C	XP_024303655.1:n.*269A>C
XM_024447888.1:c.*269A>C	XP_024303656.1:n.*269A>C
XM_024447889.1:c.*269A>C	XP_024303657.1:n.*269A>C
XM_024447890.1:c.*269A>C	XP_024303658.1:n.*269A>C
XM_024447891.1:c.*269A>C	XP_024303659.1:n.*269A>C
XM_024447892.1:c.*269A>C	XP_024303660.1:n.*269A>C
NM_000141.5:c.*269A>C MANE Select	NP_000132.3:n.*269A>C
NM_001144917.2:c.*269A>C	NP_001138389.1:n.*269A>C
NM_001144918.2:c.*269A>C	NP_001138390.1:n.*269A>C
NM_001320658.2:c.*269A>C	NP_001307587.1:n.*269A>C
NR_073009.2:n.3171A>C
NM_001144915.2:c.2117A>C	NP_001138387.1:p.Asp706Ala
NM_001144916.2:c.*269A>C	NP_001138388.1:n.*269A>C
NM_001320654.2:c.*269A>C	NP_001307583.1:n.*269A>C