Canonical Allele Identifier: CA123000

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 13298
• ClinVar RCV Id: RCV000014224 ; RCV000414415
• dbSNP Id: rs121918509
• MyVariant Identifiers: chr10:g.123247609C>T (hg19) ; chr10:g.121488095C>T (hg38)
• PubMed: PMID:16501574 ; PMID:18056630

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1885G>A MANE Plus Clinical	ENSP00000410294.2:p.Ala629Thr
ENST00000351936.11:c.1876G>A	ENSP00000309878.10:p.Ala626Thr
ENST00000638709.2:c.706G>A	ENSP00000491912.2:p.Ala236Thr
ENST00000682296.1:n.1224G>A
ENST00000682550.1:c.1531G>A	ENSP00000507633.1:p.Ala511Thr
ENST00000682772.1:c.706G>A	ENSP00000506848.1:p.Ala236Thr
ENST00000682904.1:n.702G>A
ENST00000683029.1:n.294G>A
ENST00000683211.1:c.1876G>A	ENSP00000508257.1:p.Ala626Thr
ENST00000683250.1:c.*584G>A	ENSP00000506847.1:n.*584G>A
ENST00000683418.1:n.4223G>A
ENST00000684153.1:c.1531G>A	ENSP00000506937.1:p.Ala511Thr
ENST00000684516.1:n.2895G>A
ENST00000358487.10:c.1882G>A MANE Select	ENSP00000351276.6:p.Ala628Thr
ENST00000336553.10:c.1609G>A	ENSP00000337665.6:p.Ala537Thr
ENST00000346997.6:c.1876G>A	ENSP00000263451.5:p.Ala626Thr
ENST00000351936.10:c.1882G>A	ENSP00000309878.9:p.Ala628Thr
ENST00000356226.8:c.1531G>A	ENSP00000348559.4:p.Ala511Thr
ENST00000357555.9:c.1615G>A	ENSP00000350166.5:p.Ala539Thr
ENST00000358487.9:c.1882G>A	ENSP00000351276.5:p.Ala628Thr
ENST00000360144.7:c.1618G>A	ENSP00000353262.3:p.Ala540Thr
ENST00000369056.5:c.1885G>A	ENSP00000358052.1:p.Ala629Thr
ENST00000369058.7:c.1885G>A	ENSP00000358054.3:p.Ala629Thr
ENST00000369059.5:c.1540G>A	ENSP00000358055.1:p.Ala514Thr
ENST00000369060.8:c.1534G>A	ENSP00000358056.4:p.Ala512Thr
ENST00000369061.8:c.1546G>A	ENSP00000358057.4:p.Ala516Thr
ENST00000429361.5:c.658G>A	ENSP00000404219.1:p.Ala220Thr
ENST00000457416.6:c.1885G>A	ENSP00000410294.2:p.Ala629Thr
ENST00000478859.5:c.1198G>A	ENSP00000474011.1:p.Ala400Thr
ENST00000604236.5:c.*929G>A	ENSP00000474109.1:n.*929G>A
ENST00000613048.4:c.1615G>A	ENSP00000484154.1:p.Ala539Thr
NM_000141.4:c.1882G>A	NP_000132.3:p.Ala628Thr
NM_001144913.1:c.1885G>A	NP_001138385.1:p.Ala629Thr
NM_001144914.1:c.1546G>A	NP_001138386.1:p.Ala516Thr
NM_001144915.1:c.1615G>A	NP_001138387.1:p.Ala539Thr
NM_001144916.1:c.1537G>A	NP_001138388.1:p.Ala513Thr
NM_001144917.1:c.1534G>A	NP_001138389.1:p.Ala512Thr
NM_001144918.1:c.1531G>A	NP_001138390.1:p.Ala511Thr
NM_001144919.1:c.1618G>A	NP_001138391.1:p.Ala540Thr
NM_022970.3:c.1885G>A	NP_075259.4:p.Ala629Thr
NM_023029.2:c.1615G>A	NP_075418.1:p.Ala539Thr
NR_073009.1:n.2332G>A
XM_006717708.2:c.1936G>A	XP_006717771.1:p.Ala646Thr
XM_006717709.2:c.1933G>A	XP_006717772.1:p.Ala645Thr
XM_006717710.2:c.1942G>A	XP_006717773.1:p.Ala648Thr
XM_006717711.2:c.1675G>A	XP_006717774.1:p.Ala559Thr
XM_006717712.2:c.1597G>A	XP_006717775.1:p.Ala533Thr
XM_006717713.2:c.1939G>A	XP_006717776.1:p.Ala647Thr
XM_011539510.1:c.1198G>A	XP_011537812.1:p.Ala400Thr
NM_001320654.1:c.1198G>A	NP_001307583.1:p.Ala400Thr
NM_001320658.1:c.1876G>A	NP_001307587.1:p.Ala626Thr
XM_006717708.3:c.1936G>A	XP_006717771.1:p.Ala646Thr
XM_006717710.4:c.1942G>A	XP_006717773.1:p.Ala648Thr
XM_017015920.2:c.1936G>A	XP_016871409.1:p.Ala646Thr
XM_017015921.2:c.1933G>A	XP_016871410.1:p.Ala645Thr
XM_017015924.2:c.1594G>A	XP_016871413.1:p.Ala532Thr
XM_017015925.2:c.1588G>A	XP_016871414.1:p.Ala530Thr
XM_024447887.1:c.1672G>A	XP_024303655.1:p.Ala558Thr
XM_024447888.1:c.1669G>A	XP_024303656.1:p.Ala557Thr
XM_024447889.1:c.1666G>A	XP_024303657.1:p.Ala556Thr
XM_024447890.1:c.1675G>A	XP_024303658.1:p.Ala559Thr
XM_024447891.1:c.1597G>A	XP_024303659.1:p.Ala533Thr
XM_024447892.1:c.712G>A	XP_024303660.1:p.Ala238Thr
NM_000141.5:c.1882G>A MANE Select	NP_000132.3:p.Ala628Thr
NM_001144917.2:c.1534G>A	NP_001138389.1:p.Ala512Thr
NM_001144918.2:c.1531G>A	NP_001138390.1:p.Ala511Thr
NM_001144919.2:c.1618G>A	NP_001138391.1:p.Ala540Thr
NM_001320658.2:c.1876G>A	NP_001307587.1:p.Ala626Thr
NR_073009.2:n.2318G>A
NM_001144915.2:c.1615G>A	NP_001138387.1:p.Ala539Thr
NM_001144916.2:c.1537G>A	NP_001138388.1:p.Ala513Thr
NM_001320654.2:c.1198G>A	NP_001307583.1:p.Ala400Thr