Canonical Allele Identifier: CA5720825
Community Standard Title: NM_000141.5(FGFR2):c.1167C>G (p.Ala389=)
Gene: FGFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121515237G>C , CM000672.2:g.121515237G>C GRCh38
NC_000010.10:g.123274751G>C , CM000672.1:g.123274751G>C GRCh37
NC_000010.9:g.123264741G>C NCBI36
NG_012449.1:g.88222C>G
NG_012449.2:g.88222C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000141.5:c.1167C>G MANE Select NP_000132.3:p.Ala389=
ENST00000358487.10:c.1167C>G MANE Select ENSP00000351276.6:p.Ala389=
ENST00000457416.7:c.1170C>G MANE Plus Clinical ENSP00000410294.2:p.Ala390=
NM_000141.4:c.1167C>G NP_000132.3:p.Ala389=
NM_001144913.1:c.1170C>G NP_001138385.1:p.Ala390=
NM_001144914.1:c.831C>G NP_001138386.1:p.Ala277=
NM_001144915.1:c.900C>G NP_001138387.1:p.Ala300=
NM_001144915.2:c.900C>G NP_001138387.1:p.Ala300=
NM_001144916.1:c.822C>G NP_001138388.1:p.Ala274=
NM_001144916.2:c.822C>G NP_001138388.1:p.Ala274=
NM_001144917.1:c.939+4742C>G NP_001138389.1:n.939+4742C>G
NM_001144917.2:c.939+4742C>G NP_001138389.1:n.939+4742C>G
NM_001144918.1:c.822C>G NP_001138390.1:p.Ala274=
NM_001144918.2:c.822C>G NP_001138390.1:p.Ala274=
NM_001144919.1:c.903C>G NP_001138391.1:p.Ala301=
NM_001144919.2:c.903C>G NP_001138391.1:p.Ala301=
NM_001320654.1:c.483C>G NP_001307583.1:p.Ala161=
NM_001320654.2:c.483C>G NP_001307583.1:p.Ala161=
NM_001320658.1:c.1167C>G NP_001307587.1:p.Ala389=
NM_001320658.2:c.1167C>G NP_001307587.1:p.Ala389=
NM_022970.3:c.1170C>G NP_075259.4:p.Ala390=
NM_023029.2:c.900C>G NP_075418.1:p.Ala300=
NR_073009.1:n.1617C>G
NR_073009.2:n.1603C>G
ENST00000336553.10:c.900C>G ENSP00000337665.6:p.Ala300=
ENST00000346997.6:c.1167C>G ENSP00000263451.5:p.Ala389=
ENST00000351936.10:c.1173C>G ENSP00000309878.9:p.Ala391=
ENST00000351936.11:c.1167C>G ENSP00000309878.10:p.Ala389=
ENST00000356226.8:c.822C>G ENSP00000348559.4:p.Ala274=
ENST00000357555.9:c.900C>G ENSP00000350166.5:p.Ala300=
ENST00000358487.9:c.1167C>G ENSP00000351276.5:p.Ala389=
ENST00000360144.7:c.903C>G ENSP00000353262.3:p.Ala301=
ENST00000369056.5:c.1170C>G ENSP00000358052.1:p.Ala390=
ENST00000369058.7:c.1170C>G ENSP00000358054.3:p.Ala390=
ENST00000369059.5:c.825C>G ENSP00000358055.1:p.Ala275=
ENST00000369060.8:c.939+4742C>G ENSP00000358056.4:n.939+4742C>G
ENST00000369061.8:c.831C>G ENSP00000358057.4:p.Ala277=
ENST00000457416.6:c.1170C>G ENSP00000410294.2:p.Ala390=
ENST00000463870.5:n.376C>G
ENST00000478859.5:c.483C>G ENSP00000474011.1:p.Ala161=
ENST00000604236.5:c.*214C>G ENSP00000474109.1:n.*214C>G
ENST00000613048.4:c.900C>G ENSP00000484154.1:p.Ala300=
ENST00000638709.2:c.-4C>G ENSP00000491912.2:n.-4C>G
ENST00000682296.1:n.515C>G
ENST00000682550.1:c.822C>G ENSP00000507633.1:p.Ala274=
ENST00000682772.1:c.-4C>G ENSP00000506848.1:n.-4C>G
ENST00000683211.1:c.1167C>G ENSP00000508257.1:p.Ala389=
ENST00000683250.1:c.404-11296C>G ENSP00000506847.1:n.404-11296C>G
ENST00000683418.1:n.3514C>G
ENST00000684153.1:c.822C>G ENSP00000506937.1:p.Ala274=
XM_006717708.2:c.1227C>G XP_006717771.1:p.Ala409=
XM_006717708.3:c.1227C>G XP_006717771.1:p.Ala409=
XM_006717709.2:c.1224C>G XP_006717772.1:p.Ala408=
XM_006717710.2:c.1227C>G XP_006717773.1:p.Ala409=
XM_006717710.4:c.1227C>G XP_006717773.1:p.Ala409=
XM_006717711.2:c.960C>G XP_006717774.1:p.Ala320=
XM_006717712.2:c.882C>G XP_006717775.1:p.Ala294=
XM_006717713.2:c.1224C>G XP_006717776.1:p.Ala408=
XM_011539510.1:c.483C>G XP_011537812.1:p.Ala161=
XM_017015920.2:c.1227C>G XP_016871409.1:p.Ala409=
XM_017015921.2:c.1224C>G XP_016871410.1:p.Ala408=
XM_017015924.2:c.879C>G XP_016871413.1:p.Ala293=
XM_017015925.2:c.879C>G XP_016871414.1:p.Ala293=
XM_024447887.1:c.957C>G XP_024303655.1:p.Ala319=
XM_024447888.1:c.960C>G XP_024303656.1:p.Ala320=
XM_024447889.1:c.957C>G XP_024303657.1:p.Ala319=
XM_024447890.1:c.960C>G XP_024303658.1:p.Ala320=
XM_024447891.1:c.882C>G XP_024303659.1:p.Ala294=
XM_024447892.1:c.-4C>G XP_024303660.1:n.-4C>G