Canonical Allele Identifier: CA378315148

Gene: FGFR2

Linked Data

• dbSNP Id: rs775697900
• MyVariant Identifiers: chr10:g.123247624T>A (hg19) ; chr10:g.121488110T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488110T>A , CM000672.2:g.121488110T>A	GRCh38
NC_000010.10:g.123247624T>A , CM000672.1:g.123247624T>A	GRCh37
NC_000010.9:g.123237614T>A	NCBI36
NG_012449.1:g.115349A>T
NG_012449.2:g.115349A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1870A>T MANE Plus Clinical	ENSP00000410294.2:p.Ile624Phe
ENST00000351936.11:c.1861A>T	ENSP00000309878.10:p.Ile621Phe
ENST00000638709.2:c.691A>T	ENSP00000491912.2:p.Ile231Phe
ENST00000682296.1:n.1209A>T
ENST00000682550.1:c.1516A>T	ENSP00000507633.1:p.Ile506Phe
ENST00000682772.1:c.691A>T	ENSP00000506848.1:p.Ile231Phe
ENST00000682904.1:n.687A>T
ENST00000683029.1:n.279A>T
ENST00000683211.1:c.1861A>T	ENSP00000508257.1:p.Ile621Phe
ENST00000683250.1:c.*569A>T	ENSP00000506847.1:n.*569A>T
ENST00000683418.1:n.4208A>T
ENST00000684153.1:c.1516A>T	ENSP00000506937.1:p.Ile506Phe
ENST00000684516.1:n.2880A>T
ENST00000358487.10:c.1867A>T MANE Select	ENSP00000351276.6:p.Ile623Phe
ENST00000336553.10:c.1594A>T	ENSP00000337665.6:p.Ile532Phe
ENST00000346997.6:c.1861A>T	ENSP00000263451.5:p.Ile621Phe
ENST00000351936.10:c.1867A>T	ENSP00000309878.9:p.Ile623Phe
ENST00000356226.8:c.1516A>T	ENSP00000348559.4:p.Ile506Phe
ENST00000357555.9:c.1600A>T	ENSP00000350166.5:p.Ile534Phe
ENST00000358487.9:c.1867A>T	ENSP00000351276.5:p.Ile623Phe
ENST00000360144.7:c.1603A>T	ENSP00000353262.3:p.Ile535Phe
ENST00000369056.5:c.1870A>T	ENSP00000358052.1:p.Ile624Phe
ENST00000369058.7:c.1870A>T	ENSP00000358054.3:p.Ile624Phe
ENST00000369059.5:c.1525A>T	ENSP00000358055.1:p.Ile509Phe
ENST00000369060.8:c.1519A>T	ENSP00000358056.4:p.Ile507Phe
ENST00000369061.8:c.1531A>T	ENSP00000358057.4:p.Ile511Phe
ENST00000429361.5:c.643A>T	ENSP00000404219.1:p.Ile215Phe
ENST00000457416.6:c.1870A>T	ENSP00000410294.2:p.Ile624Phe
ENST00000478859.5:c.1183A>T	ENSP00000474011.1:p.Ile395Phe
ENST00000604236.5:c.*914A>T	ENSP00000474109.1:n.*914A>T
ENST00000613048.4:c.1600A>T	ENSP00000484154.1:p.Ile534Phe
NM_000141.4:c.1867A>T	NP_000132.3:p.Ile623Phe
NM_001144913.1:c.1870A>T	NP_001138385.1:p.Ile624Phe
NM_001144914.1:c.1531A>T	NP_001138386.1:p.Ile511Phe
NM_001144915.1:c.1600A>T	NP_001138387.1:p.Ile534Phe
NM_001144916.1:c.1522A>T	NP_001138388.1:p.Ile508Phe
NM_001144917.1:c.1519A>T	NP_001138389.1:p.Ile507Phe
NM_001144918.1:c.1516A>T	NP_001138390.1:p.Ile506Phe
NM_001144919.1:c.1603A>T	NP_001138391.1:p.Ile535Phe
NM_022970.3:c.1870A>T	NP_075259.4:p.Ile624Phe
NM_023029.2:c.1600A>T	NP_075418.1:p.Ile534Phe
NR_073009.1:n.2317A>T
XM_006717708.2:c.1921A>T	XP_006717771.1:p.Ile641Phe
XM_006717709.2:c.1918A>T	XP_006717772.1:p.Ile640Phe
XM_006717710.2:c.1927A>T	XP_006717773.1:p.Ile643Phe
XM_006717711.2:c.1660A>T	XP_006717774.1:p.Ile554Phe
XM_006717712.2:c.1582A>T	XP_006717775.1:p.Ile528Phe
XM_006717713.2:c.1924A>T	XP_006717776.1:p.Ile642Phe
XM_011539510.1:c.1183A>T	XP_011537812.1:p.Ile395Phe
NM_001320654.1:c.1183A>T	NP_001307583.1:p.Ile395Phe
NM_001320658.1:c.1861A>T	NP_001307587.1:p.Ile621Phe
XM_006717708.3:c.1921A>T	XP_006717771.1:p.Ile641Phe
XM_006717710.4:c.1927A>T	XP_006717773.1:p.Ile643Phe
XM_017015920.2:c.1921A>T	XP_016871409.1:p.Ile641Phe
XM_017015921.2:c.1918A>T	XP_016871410.1:p.Ile640Phe
XM_017015924.2:c.1579A>T	XP_016871413.1:p.Ile527Phe
XM_017015925.2:c.1573A>T	XP_016871414.1:p.Ile525Phe
XM_024447887.1:c.1657A>T	XP_024303655.1:p.Ile553Phe
XM_024447888.1:c.1654A>T	XP_024303656.1:p.Ile552Phe
XM_024447889.1:c.1651A>T	XP_024303657.1:p.Ile551Phe
XM_024447890.1:c.1660A>T	XP_024303658.1:p.Ile554Phe
XM_024447891.1:c.1582A>T	XP_024303659.1:p.Ile528Phe
XM_024447892.1:c.697A>T	XP_024303660.1:p.Ile233Phe
NM_000141.5:c.1867A>T MANE Select	NP_000132.3:p.Ile623Phe
NM_001144917.2:c.1519A>T	NP_001138389.1:p.Ile507Phe
NM_001144918.2:c.1516A>T	NP_001138390.1:p.Ile506Phe
NM_001144919.2:c.1603A>T	NP_001138391.1:p.Ile535Phe
NM_001320658.2:c.1861A>T	NP_001307587.1:p.Ile621Phe
NR_073009.2:n.2303A>T
NM_001144915.2:c.1600A>T	NP_001138387.1:p.Ile534Phe
NM_001144916.2:c.1522A>T	NP_001138388.1:p.Ile508Phe
NM_001320654.2:c.1183A>T	NP_001307583.1:p.Ile395Phe