Canonical Allele Identifier: CA378314664

Gene: FGFR2

Linked Data

• dbSNP Id: rs2133837099
• MyVariant Identifiers: chr10:g.123247564C>A (hg19) ; chr10:g.121488050C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488050C>A , CM000672.2:g.121488050C>A	GRCh38
NC_000010.10:g.123247564C>A , CM000672.1:g.123247564C>A	GRCh37
NC_000010.9:g.123237554C>A	NCBI36
NG_012449.1:g.115409G>T
NG_012449.2:g.115409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1930G>T MANE Plus Clinical	ENSP00000410294.2:p.Ala644Ser
ENST00000351936.11:c.1921G>T	ENSP00000309878.10:p.Ala641Ser
ENST00000638709.2:c.751G>T	ENSP00000491912.2:p.Ala251Ser
ENST00000682296.1:n.1269G>T
ENST00000682550.1:c.1576G>T	ENSP00000507633.1:p.Ala526Ser
ENST00000682772.1:c.751G>T	ENSP00000506848.1:p.Ala251Ser
ENST00000682904.1:n.747G>T
ENST00000683029.1:n.339G>T
ENST00000683211.1:c.1921G>T	ENSP00000508257.1:p.Ala641Ser
ENST00000683250.1:c.*629G>T	ENSP00000506847.1:n.*629G>T
ENST00000683418.1:n.4268G>T
ENST00000684153.1:c.1576G>T	ENSP00000506937.1:p.Ala526Ser
ENST00000684516.1:n.2940G>T
ENST00000358487.10:c.1927G>T MANE Select	ENSP00000351276.6:p.Ala643Ser
ENST00000336553.10:c.1654G>T	ENSP00000337665.6:p.Ala552Ser
ENST00000346997.6:c.1921G>T	ENSP00000263451.5:p.Ala641Ser
ENST00000351936.10:c.1927G>T	ENSP00000309878.9:p.Ala643Ser
ENST00000356226.8:c.1576G>T	ENSP00000348559.4:p.Ala526Ser
ENST00000357555.9:c.1660G>T	ENSP00000350166.5:p.Ala554Ser
ENST00000358487.9:c.1927G>T	ENSP00000351276.5:p.Ala643Ser
ENST00000360144.7:c.1663G>T	ENSP00000353262.3:p.Ala555Ser
ENST00000369056.5:c.1930G>T	ENSP00000358052.1:p.Ala644Ser
ENST00000369058.7:c.1930G>T	ENSP00000358054.3:p.Ala644Ser
ENST00000369059.5:c.1585G>T	ENSP00000358055.1:p.Ala529Ser
ENST00000369060.8:c.1579G>T	ENSP00000358056.4:p.Ala527Ser
ENST00000369061.8:c.1591G>T	ENSP00000358057.4:p.Ala531Ser
ENST00000429361.5:c.703G>T	ENSP00000404219.1:p.Ala235Ser
ENST00000457416.6:c.1930G>T	ENSP00000410294.2:p.Ala644Ser
ENST00000478859.5:c.1243G>T	ENSP00000474011.1:p.Ala415Ser
ENST00000604236.5:c.*974G>T	ENSP00000474109.1:n.*974G>T
ENST00000613048.4:c.1660G>T	ENSP00000484154.1:p.Ala554Ser
NM_000141.4:c.1927G>T	NP_000132.3:p.Ala643Ser
NM_001144913.1:c.1930G>T	NP_001138385.1:p.Ala644Ser
NM_001144914.1:c.1591G>T	NP_001138386.1:p.Ala531Ser
NM_001144915.1:c.1660G>T	NP_001138387.1:p.Ala554Ser
NM_001144916.1:c.1582G>T	NP_001138388.1:p.Ala528Ser
NM_001144917.1:c.1579G>T	NP_001138389.1:p.Ala527Ser
NM_001144918.1:c.1576G>T	NP_001138390.1:p.Ala526Ser
NM_001144919.1:c.1663G>T	NP_001138391.1:p.Ala555Ser
NM_022970.3:c.1930G>T	NP_075259.4:p.Ala644Ser
NM_023029.2:c.1660G>T	NP_075418.1:p.Ala554Ser
NR_073009.1:n.2377G>T
XM_006717708.2:c.1981G>T	XP_006717771.1:p.Ala661Ser
XM_006717709.2:c.1978G>T	XP_006717772.1:p.Ala660Ser
XM_006717710.2:c.1987G>T	XP_006717773.1:p.Ala663Ser
XM_006717711.2:c.1720G>T	XP_006717774.1:p.Ala574Ser
XM_006717712.2:c.1642G>T	XP_006717775.1:p.Ala548Ser
XM_006717713.2:c.1984G>T	XP_006717776.1:p.Ala662Ser
XM_011539510.1:c.1243G>T	XP_011537812.1:p.Ala415Ser
NM_001320654.1:c.1243G>T	NP_001307583.1:p.Ala415Ser
NM_001320658.1:c.1921G>T	NP_001307587.1:p.Ala641Ser
XM_006717708.3:c.1981G>T	XP_006717771.1:p.Ala661Ser
XM_006717710.4:c.1987G>T	XP_006717773.1:p.Ala663Ser
XM_017015920.2:c.1981G>T	XP_016871409.1:p.Ala661Ser
XM_017015921.2:c.1978G>T	XP_016871410.1:p.Ala660Ser
XM_017015924.2:c.1639G>T	XP_016871413.1:p.Ala547Ser
XM_017015925.2:c.1633G>T	XP_016871414.1:p.Ala545Ser
XM_024447887.1:c.1717G>T	XP_024303655.1:p.Ala573Ser
XM_024447888.1:c.1714G>T	XP_024303656.1:p.Ala572Ser
XM_024447889.1:c.1711G>T	XP_024303657.1:p.Ala571Ser
XM_024447890.1:c.1720G>T	XP_024303658.1:p.Ala574Ser
XM_024447891.1:c.1642G>T	XP_024303659.1:p.Ala548Ser
XM_024447892.1:c.757G>T	XP_024303660.1:p.Ala253Ser
NM_000141.5:c.1927G>T MANE Select	NP_000132.3:p.Ala643Ser
NM_001144917.2:c.1579G>T	NP_001138389.1:p.Ala527Ser
NM_001144918.2:c.1576G>T	NP_001138390.1:p.Ala526Ser
NM_001144919.2:c.1663G>T	NP_001138391.1:p.Ala555Ser
NM_001320658.2:c.1921G>T	NP_001307587.1:p.Ala641Ser
NR_073009.2:n.2363G>T
NM_001144915.2:c.1660G>T	NP_001138387.1:p.Ala554Ser
NM_001144916.2:c.1582G>T	NP_001138388.1:p.Ala528Ser
NM_001320654.2:c.1243G>T	NP_001307583.1:p.Ala415Ser