Canonical Allele Identifier: CA378314924

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123247600T>G (hg19) ; chr10:g.121488086T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488086T>G , CM000672.2:g.121488086T>G	GRCh38
NC_000010.10:g.123247600T>G , CM000672.1:g.123247600T>G	GRCh37
NC_000010.9:g.123237590T>G	NCBI36
NG_012449.1:g.115373A>C
NG_012449.2:g.115373A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1894A>C MANE Plus Clinical	ENSP00000410294.2:p.Asn632His
ENST00000351936.11:c.1885A>C	ENSP00000309878.10:p.Asn629His
ENST00000638709.2:c.715A>C	ENSP00000491912.2:p.Asn239His
ENST00000682296.1:n.1233A>C
ENST00000682550.1:c.1540A>C	ENSP00000507633.1:p.Asn514His
ENST00000682772.1:c.715A>C	ENSP00000506848.1:p.Asn239His
ENST00000682904.1:n.711A>C
ENST00000683029.1:n.303A>C
ENST00000683211.1:c.1885A>C	ENSP00000508257.1:p.Asn629His
ENST00000683250.1:c.*593A>C	ENSP00000506847.1:n.*593A>C
ENST00000683418.1:n.4232A>C
ENST00000684153.1:c.1540A>C	ENSP00000506937.1:p.Asn514His
ENST00000684516.1:n.2904A>C
ENST00000358487.10:c.1891A>C MANE Select	ENSP00000351276.6:p.Asn631His
ENST00000336553.10:c.1618A>C	ENSP00000337665.6:p.Asn540His
ENST00000346997.6:c.1885A>C	ENSP00000263451.5:p.Asn629His
ENST00000351936.10:c.1891A>C	ENSP00000309878.9:p.Asn631His
ENST00000356226.8:c.1540A>C	ENSP00000348559.4:p.Asn514His
ENST00000357555.9:c.1624A>C	ENSP00000350166.5:p.Asn542His
ENST00000358487.9:c.1891A>C	ENSP00000351276.5:p.Asn631His
ENST00000360144.7:c.1627A>C	ENSP00000353262.3:p.Asn543His
ENST00000369056.5:c.1894A>C	ENSP00000358052.1:p.Asn632His
ENST00000369058.7:c.1894A>C	ENSP00000358054.3:p.Asn632His
ENST00000369059.5:c.1549A>C	ENSP00000358055.1:p.Asn517His
ENST00000369060.8:c.1543A>C	ENSP00000358056.4:p.Asn515His
ENST00000369061.8:c.1555A>C	ENSP00000358057.4:p.Asn519His
ENST00000429361.5:c.667A>C	ENSP00000404219.1:p.Asn223His
ENST00000457416.6:c.1894A>C	ENSP00000410294.2:p.Asn632His
ENST00000478859.5:c.1207A>C	ENSP00000474011.1:p.Asn403His
ENST00000604236.5:c.*938A>C	ENSP00000474109.1:n.*938A>C
ENST00000613048.4:c.1624A>C	ENSP00000484154.1:p.Asn542His
NM_000141.4:c.1891A>C	NP_000132.3:p.Asn631His
NM_001144913.1:c.1894A>C	NP_001138385.1:p.Asn632His
NM_001144914.1:c.1555A>C	NP_001138386.1:p.Asn519His
NM_001144915.1:c.1624A>C	NP_001138387.1:p.Asn542His
NM_001144916.1:c.1546A>C	NP_001138388.1:p.Asn516His
NM_001144917.1:c.1543A>C	NP_001138389.1:p.Asn515His
NM_001144918.1:c.1540A>C	NP_001138390.1:p.Asn514His
NM_001144919.1:c.1627A>C	NP_001138391.1:p.Asn543His
NM_022970.3:c.1894A>C	NP_075259.4:p.Asn632His
NM_023029.2:c.1624A>C	NP_075418.1:p.Asn542His
NR_073009.1:n.2341A>C
XM_006717708.2:c.1945A>C	XP_006717771.1:p.Asn649His
XM_006717709.2:c.1942A>C	XP_006717772.1:p.Asn648His
XM_006717710.2:c.1951A>C	XP_006717773.1:p.Asn651His
XM_006717711.2:c.1684A>C	XP_006717774.1:p.Asn562His
XM_006717712.2:c.1606A>C	XP_006717775.1:p.Asn536His
XM_006717713.2:c.1948A>C	XP_006717776.1:p.Asn650His
XM_011539510.1:c.1207A>C	XP_011537812.1:p.Asn403His
NM_001320654.1:c.1207A>C	NP_001307583.1:p.Asn403His
NM_001320658.1:c.1885A>C	NP_001307587.1:p.Asn629His
XM_006717708.3:c.1945A>C	XP_006717771.1:p.Asn649His
XM_006717710.4:c.1951A>C	XP_006717773.1:p.Asn651His
XM_017015920.2:c.1945A>C	XP_016871409.1:p.Asn649His
XM_017015921.2:c.1942A>C	XP_016871410.1:p.Asn648His
XM_017015924.2:c.1603A>C	XP_016871413.1:p.Asn535His
XM_017015925.2:c.1597A>C	XP_016871414.1:p.Asn533His
XM_024447887.1:c.1681A>C	XP_024303655.1:p.Asn561His
XM_024447888.1:c.1678A>C	XP_024303656.1:p.Asn560His
XM_024447889.1:c.1675A>C	XP_024303657.1:p.Asn559His
XM_024447890.1:c.1684A>C	XP_024303658.1:p.Asn562His
XM_024447891.1:c.1606A>C	XP_024303659.1:p.Asn536His
XM_024447892.1:c.721A>C	XP_024303660.1:p.Asn241His
NM_000141.5:c.1891A>C MANE Select	NP_000132.3:p.Asn631His
NM_001144917.2:c.1543A>C	NP_001138389.1:p.Asn515His
NM_001144918.2:c.1540A>C	NP_001138390.1:p.Asn514His
NM_001144919.2:c.1627A>C	NP_001138391.1:p.Asn543His
NM_001320658.2:c.1885A>C	NP_001307587.1:p.Asn629His
NR_073009.2:n.2327A>C
NM_001144915.2:c.1624A>C	NP_001138387.1:p.Asn542His
NM_001144916.2:c.1546A>C	NP_001138388.1:p.Asn516His
NM_001320654.2:c.1207A>C	NP_001307583.1:p.Asn403His