Canonical Allele Identifier: CA378314860
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs1243256163

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488077C>G , CM000672.2:g.121488077C>G GRCh38
NC_000010.10:g.123247591C>G , CM000672.1:g.123247591C>G GRCh37
NC_000010.9:g.123237581C>G NCBI36
NG_012449.1:g.115382G>C
NG_012449.2:g.115382G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1903G>C MANE Plus Clinical ENSP00000410294.2:p.Val635Leu
ENST00000351936.11:c.1894G>C ENSP00000309878.10:p.Val632Leu
ENST00000638709.2:c.724G>C ENSP00000491912.2:p.Val242Leu
ENST00000682296.1:n.1242G>C
ENST00000682550.1:c.1549G>C ENSP00000507633.1:p.Val517Leu
ENST00000682772.1:c.724G>C ENSP00000506848.1:p.Val242Leu
ENST00000682904.1:n.720G>C
ENST00000683029.1:n.312G>C
ENST00000683211.1:c.1894G>C ENSP00000508257.1:p.Val632Leu
ENST00000683250.1:c.*602G>C ENSP00000506847.1:n.*602G>C
ENST00000683418.1:n.4241G>C
ENST00000684153.1:c.1549G>C ENSP00000506937.1:p.Val517Leu
ENST00000684516.1:n.2913G>C
ENST00000358487.10:c.1900G>C MANE Select ENSP00000351276.6:p.Val634Leu
ENST00000336553.10:c.1627G>C ENSP00000337665.6:p.Val543Leu
ENST00000346997.6:c.1894G>C ENSP00000263451.5:p.Val632Leu
ENST00000351936.10:c.1900G>C ENSP00000309878.9:p.Val634Leu
ENST00000356226.8:c.1549G>C ENSP00000348559.4:p.Val517Leu
ENST00000357555.9:c.1633G>C ENSP00000350166.5:p.Val545Leu
ENST00000358487.9:c.1900G>C ENSP00000351276.5:p.Val634Leu
ENST00000360144.7:c.1636G>C ENSP00000353262.3:p.Val546Leu
ENST00000369056.5:c.1903G>C ENSP00000358052.1:p.Val635Leu
ENST00000369058.7:c.1903G>C ENSP00000358054.3:p.Val635Leu
ENST00000369059.5:c.1558G>C ENSP00000358055.1:p.Val520Leu
ENST00000369060.8:c.1552G>C ENSP00000358056.4:p.Val518Leu
ENST00000369061.8:c.1564G>C ENSP00000358057.4:p.Val522Leu
ENST00000429361.5:c.676G>C ENSP00000404219.1:p.Val226Leu
ENST00000457416.6:c.1903G>C ENSP00000410294.2:p.Val635Leu
ENST00000478859.5:c.1216G>C ENSP00000474011.1:p.Val406Leu
ENST00000604236.5:c.*947G>C ENSP00000474109.1:n.*947G>C
ENST00000613048.4:c.1633G>C ENSP00000484154.1:p.Val545Leu
NM_000141.4:c.1900G>C NP_000132.3:p.Val634Leu
NM_001144913.1:c.1903G>C NP_001138385.1:p.Val635Leu
NM_001144914.1:c.1564G>C NP_001138386.1:p.Val522Leu
NM_001144915.1:c.1633G>C NP_001138387.1:p.Val545Leu
NM_001144916.1:c.1555G>C NP_001138388.1:p.Val519Leu
NM_001144917.1:c.1552G>C NP_001138389.1:p.Val518Leu
NM_001144918.1:c.1549G>C NP_001138390.1:p.Val517Leu
NM_001144919.1:c.1636G>C NP_001138391.1:p.Val546Leu
NM_022970.3:c.1903G>C NP_075259.4:p.Val635Leu
NM_023029.2:c.1633G>C NP_075418.1:p.Val545Leu
NR_073009.1:n.2350G>C
XM_006717708.2:c.1954G>C XP_006717771.1:p.Val652Leu
XM_006717709.2:c.1951G>C XP_006717772.1:p.Val651Leu
XM_006717710.2:c.1960G>C XP_006717773.1:p.Val654Leu
XM_006717711.2:c.1693G>C XP_006717774.1:p.Val565Leu
XM_006717712.2:c.1615G>C XP_006717775.1:p.Val539Leu
XM_006717713.2:c.1957G>C XP_006717776.1:p.Val653Leu
XM_011539510.1:c.1216G>C XP_011537812.1:p.Val406Leu
NM_001320654.1:c.1216G>C NP_001307583.1:p.Val406Leu
NM_001320658.1:c.1894G>C NP_001307587.1:p.Val632Leu
XM_006717708.3:c.1954G>C XP_006717771.1:p.Val652Leu
XM_006717710.4:c.1960G>C XP_006717773.1:p.Val654Leu
XM_017015920.2:c.1954G>C XP_016871409.1:p.Val652Leu
XM_017015921.2:c.1951G>C XP_016871410.1:p.Val651Leu
XM_017015924.2:c.1612G>C XP_016871413.1:p.Val538Leu
XM_017015925.2:c.1606G>C XP_016871414.1:p.Val536Leu
XM_024447887.1:c.1690G>C XP_024303655.1:p.Val564Leu
XM_024447888.1:c.1687G>C XP_024303656.1:p.Val563Leu
XM_024447889.1:c.1684G>C XP_024303657.1:p.Val562Leu
XM_024447890.1:c.1693G>C XP_024303658.1:p.Val565Leu
XM_024447891.1:c.1615G>C XP_024303659.1:p.Val539Leu
XM_024447892.1:c.730G>C XP_024303660.1:p.Val244Leu
NM_000141.5:c.1900G>C MANE Select NP_000132.3:p.Val634Leu
NM_001144917.2:c.1552G>C NP_001138389.1:p.Val518Leu
NM_001144918.2:c.1549G>C NP_001138390.1:p.Val517Leu
NM_001144919.2:c.1636G>C NP_001138391.1:p.Val546Leu
NM_001320658.2:c.1894G>C NP_001307587.1:p.Val632Leu
NR_073009.2:n.2336G>C
NM_001144915.2:c.1633G>C NP_001138387.1:p.Val545Leu
NM_001144916.2:c.1555G>C NP_001138388.1:p.Val519Leu
NM_001320654.2:c.1216G>C NP_001307583.1:p.Val406Leu