Canonical Allele Identifier: CA378314247
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488009A>C , CM000672.2:g.121488009A>C GRCh38
NC_000010.10:g.123247523A>C , CM000672.1:g.123247523A>C GRCh37
NC_000010.9:g.123237513A>C NCBI36
NG_012449.1:g.115450T>G
NG_012449.2:g.115450T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1971T>G MANE Plus Clinical ENSP00000410294.2:p.Tyr657Ter
ENST00000351936.11:c.1962T>G ENSP00000309878.10:p.Tyr654Ter
ENST00000638709.2:c.792T>G ENSP00000491912.2:p.Tyr264Ter
ENST00000682296.1:n.1310T>G
ENST00000682550.1:c.1617T>G ENSP00000507633.1:p.Tyr539Ter
ENST00000682772.1:c.792T>G ENSP00000506848.1:p.Tyr264Ter
ENST00000682904.1:n.788T>G
ENST00000683029.1:n.380T>G
ENST00000683211.1:c.1962T>G ENSP00000508257.1:p.Tyr654Ter
ENST00000683250.1:c.*670T>G ENSP00000506847.1:n.*670T>G
ENST00000683418.1:n.4309T>G
ENST00000684153.1:c.1617T>G ENSP00000506937.1:p.Tyr539Ter
ENST00000684516.1:n.2981T>G
ENST00000358487.10:c.1968T>G MANE Select ENSP00000351276.6:p.Tyr656Ter
ENST00000336553.10:c.1695T>G ENSP00000337665.6:p.Tyr565Ter
ENST00000346997.6:c.1962T>G ENSP00000263451.5:p.Tyr654Ter
ENST00000351936.10:c.1968T>G ENSP00000309878.9:p.Tyr656Ter
ENST00000356226.8:c.1617T>G ENSP00000348559.4:p.Tyr539Ter
ENST00000357555.9:c.1701T>G ENSP00000350166.5:p.Tyr567Ter
ENST00000358487.9:c.1968T>G ENSP00000351276.5:p.Tyr656Ter
ENST00000360144.7:c.1704T>G ENSP00000353262.3:p.Tyr568Ter
ENST00000369056.5:c.1971T>G ENSP00000358052.1:p.Tyr657Ter
ENST00000369058.7:c.1971T>G ENSP00000358054.3:p.Tyr657Ter
ENST00000369059.5:c.1626T>G ENSP00000358055.1:p.Tyr542Ter
ENST00000369060.8:c.1620T>G ENSP00000358056.4:p.Tyr540Ter
ENST00000369061.8:c.1632T>G ENSP00000358057.4:p.Tyr544Ter
ENST00000429361.5:c.744T>G ENSP00000404219.1:p.Tyr248Ter
ENST00000457416.6:c.1971T>G ENSP00000410294.2:p.Tyr657Ter
ENST00000478859.5:c.1284T>G ENSP00000474011.1:p.Tyr428Ter
ENST00000604236.5:c.*1015T>G ENSP00000474109.1:n.*1015T>G
ENST00000613048.4:c.1701T>G ENSP00000484154.1:p.Tyr567Ter
NM_000141.4:c.1968T>G NP_000132.3:p.Tyr656Ter
NM_001144913.1:c.1971T>G NP_001138385.1:p.Tyr657Ter
NM_001144914.1:c.1632T>G NP_001138386.1:p.Tyr544Ter
NM_001144915.1:c.1701T>G NP_001138387.1:p.Tyr567Ter
NM_001144916.1:c.1623T>G NP_001138388.1:p.Tyr541Ter
NM_001144917.1:c.1620T>G NP_001138389.1:p.Tyr540Ter
NM_001144918.1:c.1617T>G NP_001138390.1:p.Tyr539Ter
NM_001144919.1:c.1704T>G NP_001138391.1:p.Tyr568Ter
NM_022970.3:c.1971T>G NP_075259.4:p.Tyr657Ter
NM_023029.2:c.1701T>G NP_075418.1:p.Tyr567Ter
NR_073009.1:n.2418T>G
XM_006717708.2:c.2022T>G XP_006717771.1:p.Tyr674Ter
XM_006717709.2:c.2019T>G XP_006717772.1:p.Tyr673Ter
XM_006717710.2:c.2028T>G XP_006717773.1:p.Tyr676Ter
XM_006717711.2:c.1761T>G XP_006717774.1:p.Tyr587Ter
XM_006717712.2:c.1683T>G XP_006717775.1:p.Tyr561Ter
XM_006717713.2:c.2025T>G XP_006717776.1:p.Tyr675Ter
XM_011539510.1:c.1284T>G XP_011537812.1:p.Tyr428Ter
NM_001320654.1:c.1284T>G NP_001307583.1:p.Tyr428Ter
NM_001320658.1:c.1962T>G NP_001307587.1:p.Tyr654Ter
XM_006717708.3:c.2022T>G XP_006717771.1:p.Tyr674Ter
XM_006717710.4:c.2028T>G XP_006717773.1:p.Tyr676Ter
XM_017015920.2:c.2022T>G XP_016871409.1:p.Tyr674Ter
XM_017015921.2:c.2019T>G XP_016871410.1:p.Tyr673Ter
XM_017015924.2:c.1680T>G XP_016871413.1:p.Tyr560Ter
XM_017015925.2:c.1674T>G XP_016871414.1:p.Tyr558Ter
XM_024447887.1:c.1758T>G XP_024303655.1:p.Tyr586Ter
XM_024447888.1:c.1755T>G XP_024303656.1:p.Tyr585Ter
XM_024447889.1:c.1752T>G XP_024303657.1:p.Tyr584Ter
XM_024447890.1:c.1761T>G XP_024303658.1:p.Tyr587Ter
XM_024447891.1:c.1683T>G XP_024303659.1:p.Tyr561Ter
XM_024447892.1:c.798T>G XP_024303660.1:p.Tyr266Ter
NM_000141.5:c.1968T>G MANE Select NP_000132.3:p.Tyr656Ter
NM_001144917.2:c.1620T>G NP_001138389.1:p.Tyr540Ter
NM_001144918.2:c.1617T>G NP_001138390.1:p.Tyr539Ter
NM_001144919.2:c.1704T>G NP_001138391.1:p.Tyr568Ter
NM_001320658.2:c.1962T>G NP_001307587.1:p.Tyr654Ter
NR_073009.2:n.2404T>G
NM_001144915.2:c.1701T>G NP_001138387.1:p.Tyr567Ter
NM_001144916.2:c.1623T>G NP_001138388.1:p.Tyr541Ter
NM_001320654.2:c.1284T>G NP_001307583.1:p.Tyr428Ter