Canonical Allele Identifier: CA378314888
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488082A>C , CM000672.2:g.121488082A>C GRCh38
NC_000010.10:g.123247596A>C , CM000672.1:g.123247596A>C GRCh37
NC_000010.9:g.123237586A>C NCBI36
NG_012449.1:g.115377T>G
NG_012449.2:g.115377T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1898T>G MANE Plus Clinical ENSP00000410294.2:p.Val633Gly
ENST00000351936.11:c.1889T>G ENSP00000309878.10:p.Val630Gly
ENST00000638709.2:c.719T>G ENSP00000491912.2:p.Val240Gly
ENST00000682296.1:n.1237T>G
ENST00000682550.1:c.1544T>G ENSP00000507633.1:p.Val515Gly
ENST00000682772.1:c.719T>G ENSP00000506848.1:p.Val240Gly
ENST00000682904.1:n.715T>G
ENST00000683029.1:n.307T>G
ENST00000683211.1:c.1889T>G ENSP00000508257.1:p.Val630Gly
ENST00000683250.1:c.*597T>G ENSP00000506847.1:n.*597T>G
ENST00000683418.1:n.4236T>G
ENST00000684153.1:c.1544T>G ENSP00000506937.1:p.Val515Gly
ENST00000684516.1:n.2908T>G
ENST00000358487.10:c.1895T>G MANE Select ENSP00000351276.6:p.Val632Gly
ENST00000336553.10:c.1622T>G ENSP00000337665.6:p.Val541Gly
ENST00000346997.6:c.1889T>G ENSP00000263451.5:p.Val630Gly
ENST00000351936.10:c.1895T>G ENSP00000309878.9:p.Val632Gly
ENST00000356226.8:c.1544T>G ENSP00000348559.4:p.Val515Gly
ENST00000357555.9:c.1628T>G ENSP00000350166.5:p.Val543Gly
ENST00000358487.9:c.1895T>G ENSP00000351276.5:p.Val632Gly
ENST00000360144.7:c.1631T>G ENSP00000353262.3:p.Val544Gly
ENST00000369056.5:c.1898T>G ENSP00000358052.1:p.Val633Gly
ENST00000369058.7:c.1898T>G ENSP00000358054.3:p.Val633Gly
ENST00000369059.5:c.1553T>G ENSP00000358055.1:p.Val518Gly
ENST00000369060.8:c.1547T>G ENSP00000358056.4:p.Val516Gly
ENST00000369061.8:c.1559T>G ENSP00000358057.4:p.Val520Gly
ENST00000429361.5:c.671T>G ENSP00000404219.1:p.Val224Gly
ENST00000457416.6:c.1898T>G ENSP00000410294.2:p.Val633Gly
ENST00000478859.5:c.1211T>G ENSP00000474011.1:p.Val404Gly
ENST00000604236.5:c.*942T>G ENSP00000474109.1:n.*942T>G
ENST00000613048.4:c.1628T>G ENSP00000484154.1:p.Val543Gly
NM_000141.4:c.1895T>G NP_000132.3:p.Val632Gly
NM_001144913.1:c.1898T>G NP_001138385.1:p.Val633Gly
NM_001144914.1:c.1559T>G NP_001138386.1:p.Val520Gly
NM_001144915.1:c.1628T>G NP_001138387.1:p.Val543Gly
NM_001144916.1:c.1550T>G NP_001138388.1:p.Val517Gly
NM_001144917.1:c.1547T>G NP_001138389.1:p.Val516Gly
NM_001144918.1:c.1544T>G NP_001138390.1:p.Val515Gly
NM_001144919.1:c.1631T>G NP_001138391.1:p.Val544Gly
NM_022970.3:c.1898T>G NP_075259.4:p.Val633Gly
NM_023029.2:c.1628T>G NP_075418.1:p.Val543Gly
NR_073009.1:n.2345T>G
XM_006717708.2:c.1949T>G XP_006717771.1:p.Val650Gly
XM_006717709.2:c.1946T>G XP_006717772.1:p.Val649Gly
XM_006717710.2:c.1955T>G XP_006717773.1:p.Val652Gly
XM_006717711.2:c.1688T>G XP_006717774.1:p.Val563Gly
XM_006717712.2:c.1610T>G XP_006717775.1:p.Val537Gly
XM_006717713.2:c.1952T>G XP_006717776.1:p.Val651Gly
XM_011539510.1:c.1211T>G XP_011537812.1:p.Val404Gly
NM_001320654.1:c.1211T>G NP_001307583.1:p.Val404Gly
NM_001320658.1:c.1889T>G NP_001307587.1:p.Val630Gly
XM_006717708.3:c.1949T>G XP_006717771.1:p.Val650Gly
XM_006717710.4:c.1955T>G XP_006717773.1:p.Val652Gly
XM_017015920.2:c.1949T>G XP_016871409.1:p.Val650Gly
XM_017015921.2:c.1946T>G XP_016871410.1:p.Val649Gly
XM_017015924.2:c.1607T>G XP_016871413.1:p.Val536Gly
XM_017015925.2:c.1601T>G XP_016871414.1:p.Val534Gly
XM_024447887.1:c.1685T>G XP_024303655.1:p.Val562Gly
XM_024447888.1:c.1682T>G XP_024303656.1:p.Val561Gly
XM_024447889.1:c.1679T>G XP_024303657.1:p.Val560Gly
XM_024447890.1:c.1688T>G XP_024303658.1:p.Val563Gly
XM_024447891.1:c.1610T>G XP_024303659.1:p.Val537Gly
XM_024447892.1:c.725T>G XP_024303660.1:p.Val242Gly
NM_000141.5:c.1895T>G MANE Select NP_000132.3:p.Val632Gly
NM_001144917.2:c.1547T>G NP_001138389.1:p.Val516Gly
NM_001144918.2:c.1544T>G NP_001138390.1:p.Val515Gly
NM_001144919.2:c.1631T>G NP_001138391.1:p.Val544Gly
NM_001320658.2:c.1889T>G NP_001307587.1:p.Val630Gly
NR_073009.2:n.2331T>G
NM_001144915.2:c.1628T>G NP_001138387.1:p.Val543Gly
NM_001144916.2:c.1550T>G NP_001138388.1:p.Val517Gly
NM_001320654.2:c.1211T>G NP_001307583.1:p.Val404Gly