Canonical Allele Identifier: CA378315010

Gene: FGFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488095C>G , CM000672.2:g.121488095C>G	GRCh38
NC_000010.10:g.123247609C>G , CM000672.1:g.123247609C>G	GRCh37
NC_000010.9:g.123237599C>G	NCBI36
NG_012449.1:g.115364G>C
NG_012449.2:g.115364G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000141.5:c.1882G>C MANE Select	NP_000132.3:p.Ala628Pro
ENST00000358487.10:c.1882G>C MANE Select	ENSP00000351276.6:p.Ala628Pro
ENST00000457416.7:c.1885G>C MANE Plus Clinical	ENSP00000410294.2:p.Ala629Pro
NM_000141.4:c.1882G>C	NP_000132.3:p.Ala628Pro
NM_001144913.1:c.1885G>C	NP_001138385.1:p.Ala629Pro
NM_001144914.1:c.1546G>C	NP_001138386.1:p.Ala516Pro
NM_001144915.1:c.1615G>C	NP_001138387.1:p.Ala539Pro
NM_001144915.2:c.1615G>C	NP_001138387.1:p.Ala539Pro
NM_001144916.1:c.1537G>C	NP_001138388.1:p.Ala513Pro
NM_001144916.2:c.1537G>C	NP_001138388.1:p.Ala513Pro
NM_001144917.1:c.1534G>C	NP_001138389.1:p.Ala512Pro
NM_001144917.2:c.1534G>C	NP_001138389.1:p.Ala512Pro
NM_001144918.1:c.1531G>C	NP_001138390.1:p.Ala511Pro
NM_001144918.2:c.1531G>C	NP_001138390.1:p.Ala511Pro
NM_001144919.1:c.1618G>C	NP_001138391.1:p.Ala540Pro
NM_001144919.2:c.1618G>C	NP_001138391.1:p.Ala540Pro
NM_001320654.1:c.1198G>C	NP_001307583.1:p.Ala400Pro
NM_001320654.2:c.1198G>C	NP_001307583.1:p.Ala400Pro
NM_001320658.1:c.1876G>C	NP_001307587.1:p.Ala626Pro
NM_001320658.2:c.1876G>C	NP_001307587.1:p.Ala626Pro
NM_022970.3:c.1885G>C	NP_075259.4:p.Ala629Pro
NM_023029.2:c.1615G>C	NP_075418.1:p.Ala539Pro
NR_073009.1:n.2332G>C
NR_073009.2:n.2318G>C
ENST00000336553.10:c.1609G>C	ENSP00000337665.6:p.Ala537Pro
ENST00000346997.6:c.1876G>C	ENSP00000263451.5:p.Ala626Pro
ENST00000351936.10:c.1882G>C	ENSP00000309878.9:p.Ala628Pro
ENST00000351936.11:c.1876G>C	ENSP00000309878.10:p.Ala626Pro
ENST00000356226.8:c.1531G>C	ENSP00000348559.4:p.Ala511Pro
ENST00000357555.9:c.1615G>C	ENSP00000350166.5:p.Ala539Pro
ENST00000358487.9:c.1882G>C	ENSP00000351276.5:p.Ala628Pro
ENST00000360144.7:c.1618G>C	ENSP00000353262.3:p.Ala540Pro
ENST00000369056.5:c.1885G>C	ENSP00000358052.1:p.Ala629Pro
ENST00000369058.7:c.1885G>C	ENSP00000358054.3:p.Ala629Pro
ENST00000369059.5:c.1540G>C	ENSP00000358055.1:p.Ala514Pro
ENST00000369060.8:c.1534G>C	ENSP00000358056.4:p.Ala512Pro
ENST00000369061.8:c.1546G>C	ENSP00000358057.4:p.Ala516Pro
ENST00000429361.5:c.658G>C	ENSP00000404219.1:p.Ala220Pro
ENST00000457416.6:c.1885G>C	ENSP00000410294.2:p.Ala629Pro
ENST00000478859.5:c.1198G>C	ENSP00000474011.1:p.Ala400Pro
ENST00000604236.5:c.*929G>C	ENSP00000474109.1:n.*929G>C
ENST00000613048.4:c.1615G>C	ENSP00000484154.1:p.Ala539Pro
ENST00000638709.2:c.706G>C	ENSP00000491912.2:p.Ala236Pro
ENST00000682296.1:n.1224G>C
ENST00000682550.1:c.1531G>C	ENSP00000507633.1:p.Ala511Pro
ENST00000682772.1:c.706G>C	ENSP00000506848.1:p.Ala236Pro
ENST00000682904.1:n.702G>C
ENST00000683029.1:n.294G>C
ENST00000683211.1:c.1876G>C	ENSP00000508257.1:p.Ala626Pro
ENST00000683250.1:c.*584G>C	ENSP00000506847.1:n.*584G>C
ENST00000683418.1:n.4223G>C
ENST00000684153.1:c.1531G>C	ENSP00000506937.1:p.Ala511Pro
ENST00000684516.1:n.2895G>C
XM_006717708.2:c.1936G>C	XP_006717771.1:p.Ala646Pro
XM_006717708.3:c.1936G>C	XP_006717771.1:p.Ala646Pro
XM_006717709.2:c.1933G>C	XP_006717772.1:p.Ala645Pro
XM_006717710.2:c.1942G>C	XP_006717773.1:p.Ala648Pro
XM_006717710.4:c.1942G>C	XP_006717773.1:p.Ala648Pro
XM_006717711.2:c.1675G>C	XP_006717774.1:p.Ala559Pro
XM_006717712.2:c.1597G>C	XP_006717775.1:p.Ala533Pro
XM_006717713.2:c.1939G>C	XP_006717776.1:p.Ala647Pro
XM_011539510.1:c.1198G>C	XP_011537812.1:p.Ala400Pro
XM_017015920.2:c.1936G>C	XP_016871409.1:p.Ala646Pro
XM_017015921.2:c.1933G>C	XP_016871410.1:p.Ala645Pro
XM_017015924.2:c.1594G>C	XP_016871413.1:p.Ala532Pro
XM_017015925.2:c.1588G>C	XP_016871414.1:p.Ala530Pro
XM_024447887.1:c.1672G>C	XP_024303655.1:p.Ala558Pro
XM_024447888.1:c.1669G>C	XP_024303656.1:p.Ala557Pro
XM_024447889.1:c.1666G>C	XP_024303657.1:p.Ala556Pro
XM_024447890.1:c.1675G>C	XP_024303658.1:p.Ala559Pro
XM_024447891.1:c.1597G>C	XP_024303659.1:p.Ala533Pro
XM_024447892.1:c.712G>C	XP_024303660.1:p.Ala238Pro