Canonical Allele Identifier: CA378314877

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123247594A>C (hg19) ; chr10:g.121488080A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488080A>C , CM000672.2:g.121488080A>C	GRCh38
NC_000010.10:g.123247594A>C , CM000672.1:g.123247594A>C	GRCh37
NC_000010.9:g.123237584A>C	NCBI36
NG_012449.1:g.115379T>G
NG_012449.2:g.115379T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1900T>G MANE Plus Clinical	ENSP00000410294.2:p.Leu634Val
ENST00000351936.11:c.1891T>G	ENSP00000309878.10:p.Leu631Val
ENST00000638709.2:c.721T>G	ENSP00000491912.2:p.Leu241Val
ENST00000682296.1:n.1239T>G
ENST00000682550.1:c.1546T>G	ENSP00000507633.1:p.Leu516Val
ENST00000682772.1:c.721T>G	ENSP00000506848.1:p.Leu241Val
ENST00000682904.1:n.717T>G
ENST00000683029.1:n.309T>G
ENST00000683211.1:c.1891T>G	ENSP00000508257.1:p.Leu631Val
ENST00000683250.1:c.*599T>G	ENSP00000506847.1:n.*599T>G
ENST00000683418.1:n.4238T>G
ENST00000684153.1:c.1546T>G	ENSP00000506937.1:p.Leu516Val
ENST00000684516.1:n.2910T>G
ENST00000358487.10:c.1897T>G MANE Select	ENSP00000351276.6:p.Leu633Val
ENST00000336553.10:c.1624T>G	ENSP00000337665.6:p.Leu542Val
ENST00000346997.6:c.1891T>G	ENSP00000263451.5:p.Leu631Val
ENST00000351936.10:c.1897T>G	ENSP00000309878.9:p.Leu633Val
ENST00000356226.8:c.1546T>G	ENSP00000348559.4:p.Leu516Val
ENST00000357555.9:c.1630T>G	ENSP00000350166.5:p.Leu544Val
ENST00000358487.9:c.1897T>G	ENSP00000351276.5:p.Leu633Val
ENST00000360144.7:c.1633T>G	ENSP00000353262.3:p.Leu545Val
ENST00000369056.5:c.1900T>G	ENSP00000358052.1:p.Leu634Val
ENST00000369058.7:c.1900T>G	ENSP00000358054.3:p.Leu634Val
ENST00000369059.5:c.1555T>G	ENSP00000358055.1:p.Leu519Val
ENST00000369060.8:c.1549T>G	ENSP00000358056.4:p.Leu517Val
ENST00000369061.8:c.1561T>G	ENSP00000358057.4:p.Leu521Val
ENST00000429361.5:c.673T>G	ENSP00000404219.1:p.Leu225Val
ENST00000457416.6:c.1900T>G	ENSP00000410294.2:p.Leu634Val
ENST00000478859.5:c.1213T>G	ENSP00000474011.1:p.Leu405Val
ENST00000604236.5:c.*944T>G	ENSP00000474109.1:n.*944T>G
ENST00000613048.4:c.1630T>G	ENSP00000484154.1:p.Leu544Val
NM_000141.4:c.1897T>G	NP_000132.3:p.Leu633Val
NM_001144913.1:c.1900T>G	NP_001138385.1:p.Leu634Val
NM_001144914.1:c.1561T>G	NP_001138386.1:p.Leu521Val
NM_001144915.1:c.1630T>G	NP_001138387.1:p.Leu544Val
NM_001144916.1:c.1552T>G	NP_001138388.1:p.Leu518Val
NM_001144917.1:c.1549T>G	NP_001138389.1:p.Leu517Val
NM_001144918.1:c.1546T>G	NP_001138390.1:p.Leu516Val
NM_001144919.1:c.1633T>G	NP_001138391.1:p.Leu545Val
NM_022970.3:c.1900T>G	NP_075259.4:p.Leu634Val
NM_023029.2:c.1630T>G	NP_075418.1:p.Leu544Val
NR_073009.1:n.2347T>G
XM_006717708.2:c.1951T>G	XP_006717771.1:p.Leu651Val
XM_006717709.2:c.1948T>G	XP_006717772.1:p.Leu650Val
XM_006717710.2:c.1957T>G	XP_006717773.1:p.Leu653Val
XM_006717711.2:c.1690T>G	XP_006717774.1:p.Leu564Val
XM_006717712.2:c.1612T>G	XP_006717775.1:p.Leu538Val
XM_006717713.2:c.1954T>G	XP_006717776.1:p.Leu652Val
XM_011539510.1:c.1213T>G	XP_011537812.1:p.Leu405Val
NM_001320654.1:c.1213T>G	NP_001307583.1:p.Leu405Val
NM_001320658.1:c.1891T>G	NP_001307587.1:p.Leu631Val
XM_006717708.3:c.1951T>G	XP_006717771.1:p.Leu651Val
XM_006717710.4:c.1957T>G	XP_006717773.1:p.Leu653Val
XM_017015920.2:c.1951T>G	XP_016871409.1:p.Leu651Val
XM_017015921.2:c.1948T>G	XP_016871410.1:p.Leu650Val
XM_017015924.2:c.1609T>G	XP_016871413.1:p.Leu537Val
XM_017015925.2:c.1603T>G	XP_016871414.1:p.Leu535Val
XM_024447887.1:c.1687T>G	XP_024303655.1:p.Leu563Val
XM_024447888.1:c.1684T>G	XP_024303656.1:p.Leu562Val
XM_024447889.1:c.1681T>G	XP_024303657.1:p.Leu561Val
XM_024447890.1:c.1690T>G	XP_024303658.1:p.Leu564Val
XM_024447891.1:c.1612T>G	XP_024303659.1:p.Leu538Val
XM_024447892.1:c.727T>G	XP_024303660.1:p.Leu243Val
NM_000141.5:c.1897T>G MANE Select	NP_000132.3:p.Leu633Val
NM_001144917.2:c.1549T>G	NP_001138389.1:p.Leu517Val
NM_001144918.2:c.1546T>G	NP_001138390.1:p.Leu516Val
NM_001144919.2:c.1633T>G	NP_001138391.1:p.Leu545Val
NM_001320658.2:c.1891T>G	NP_001307587.1:p.Leu631Val
NR_073009.2:n.2333T>G
NM_001144915.2:c.1630T>G	NP_001138387.1:p.Leu544Val
NM_001144916.2:c.1552T>G	NP_001138388.1:p.Leu518Val
NM_001320654.2:c.1213T>G	NP_001307583.1:p.Leu405Val