Canonical Allele Identifier: CA2611203067
Gene: FGFR2 HGNC NCBI

Linked Data

gnomAD v4: 10-121564371-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121564371G>T , CM000672.2:g.121564371G>T GRCh38
NC_000010.10:g.123323885G>T , CM000672.1:g.123323885G>T GRCh37
NC_000010.9:g.123313875G>T NCBI36
NG_012449.1:g.39088C>A
NG_012449.2:g.39088C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000457416.7:c.454+131C>A MANE Plus Clinical ENSP00000410294.2:n.454+131C>A
ENST00000351936.11:c.454+131C>A ENSP00000309878.10:n.454+131C>A
ENST00000682400.1:n.110-12912C>A
ENST00000682550.1:c.110-12912C>A ENSP00000507633.1:n.110-12912C>A
ENST00000683035.1:c.*123C>A ENSP00000507074.1:n.*123C>A
ENST00000683211.1:c.454+131C>A ENSP00000508257.1:n.454+131C>A
ENST00000683250.1:c.110-12912C>A ENSP00000506847.1:n.110-12912C>A
ENST00000683678.1:n.454+131C>A
ENST00000684153.1:c.110-12912C>A ENSP00000506937.1:n.110-12912C>A
ENST00000358487.10:c.454+131C>A MANE Select ENSP00000351276.6:n.454+131C>A
ENST00000636922.1:c.386C>A ENSP00000490905.1:p.Ser129Tyr
ENST00000336553.10:c.187+131C>A ENSP00000337665.6:n.187+131C>A
ENST00000346997.6:c.454+131C>A ENSP00000263451.5:n.454+131C>A
ENST00000351936.10:c.454+131C>A ENSP00000309878.9:n.454+131C>A
ENST00000356226.8:c.110-12912C>A ENSP00000348559.4:n.110-12912C>A
ENST00000357555.9:c.187+131C>A ENSP00000350166.5:n.187+131C>A
ENST00000358487.9:c.454+131C>A ENSP00000351276.5:n.454+131C>A
ENST00000359354.6:c.454+131C>A ENSP00000352309.2:n.454+131C>A
ENST00000360144.7:c.187+131C>A ENSP00000353262.3:n.187+131C>A
ENST00000369056.5:c.454+131C>A ENSP00000358052.1:n.454+131C>A
ENST00000369058.7:c.454+131C>A ENSP00000358054.3:n.454+131C>A
ENST00000369059.5:c.110-12912C>A ENSP00000358055.1:n.110-12912C>A
ENST00000369060.8:c.454+131C>A ENSP00000358056.4:n.454+131C>A
ENST00000369061.8:c.454+131C>A ENSP00000358057.4:n.454+131C>A
ENST00000457416.6:c.454+131C>A ENSP00000410294.2:n.454+131C>A
ENST00000490349.5:n.715+131C>A
ENST00000491475.1:n.683C>A
ENST00000604236.5:c.110-12912C>A ENSP00000474109.1:n.110-12912C>A
ENST00000611527.1:c.*123C>A ENSP00000484892.1:n.*123C>A
ENST00000613048.4:c.187+131C>A ENSP00000484154.1:n.187+131C>A
ENST00000613324.4:c.532C>A
NM_000141.4:c.454+131C>A NP_000132.3:n.454+131C>A
NM_001144913.1:c.454+131C>A NP_001138385.1:n.454+131C>A
NM_001144914.1:c.454+131C>A NP_001138386.1:n.454+131C>A
NM_001144915.1:c.187+131C>A NP_001138387.1:n.187+131C>A
NM_001144916.1:c.110-12912C>A NP_001138388.1:n.110-12912C>A
NM_001144917.1:c.454+131C>A NP_001138389.1:n.454+131C>A
NM_001144918.1:c.110-12912C>A NP_001138390.1:n.110-12912C>A
NM_001144919.1:c.187+131C>A NP_001138391.1:n.187+131C>A
NM_022970.3:c.454+131C>A NP_075259.4:n.454+131C>A
NM_023029.2:c.187+131C>A NP_075418.1:n.187+131C>A
NR_073009.1:n.757-12912C>A
XM_006717708.2:c.511+131C>A XP_006717771.1:n.511+131C>A
XM_006717709.2:c.511+131C>A XP_006717772.1:n.511+131C>A
XM_006717710.2:c.511+131C>A XP_006717773.1:n.511+131C>A
XM_006717711.2:c.244+131C>A XP_006717774.1:n.244+131C>A
XM_006717712.2:c.167-12912C>A XP_006717775.1:n.167-12912C>A
XM_006717713.2:c.511+131C>A XP_006717776.1:n.511+131C>A
NM_001320658.1:c.454+131C>A NP_001307587.1:n.454+131C>A
XM_006717708.3:c.511+131C>A XP_006717771.1:n.511+131C>A
XM_006717710.4:c.511+131C>A XP_006717773.1:n.511+131C>A
XM_017015920.2:c.511+131C>A XP_016871409.1:n.511+131C>A
XM_017015921.2:c.511+131C>A XP_016871410.1:n.511+131C>A
XM_017015924.2:c.167-12912C>A XP_016871413.1:n.167-12912C>A
XM_017015925.2:c.167-12912C>A XP_016871414.1:n.167-12912C>A
XM_024447887.1:c.244+131C>A XP_024303655.1:n.244+131C>A
XM_024447888.1:c.244+131C>A XP_024303656.1:n.244+131C>A
XM_024447889.1:c.244+131C>A XP_024303657.1:n.244+131C>A
XM_024447890.1:c.244+131C>A XP_024303658.1:n.244+131C>A
XM_024447891.1:c.167-12912C>A XP_024303659.1:n.167-12912C>A
NM_000141.5:c.454+131C>A MANE Select NP_000132.3:n.454+131C>A
NM_001144917.2:c.454+131C>A NP_001138389.1:n.454+131C>A
NM_001144918.2:c.110-12912C>A NP_001138390.1:n.110-12912C>A
NM_001144919.2:c.187+131C>A NP_001138391.1:n.187+131C>A
NM_001320658.2:c.454+131C>A NP_001307587.1:n.454+131C>A
NR_073009.2:n.743-12912C>A
NM_001144915.2:c.187+131C>A NP_001138387.1:n.187+131C>A
NM_001144916.2:c.110-12912C>A NP_001138388.1:n.110-12912C>A
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