Canonical Allele Identifier: CA378327476
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121515310C>A , CM000672.2:g.121515310C>A GRCh38
NC_000010.10:g.123274824C>A , CM000672.1:g.123274824C>A GRCh37
NC_000010.9:g.123264814C>A NCBI36
NG_012449.1:g.88149G>T
NG_012449.2:g.88149G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1097G>T MANE Plus Clinical ENSP00000410294.2:p.Arg366Ile
ENST00000351936.11:c.1094G>T ENSP00000309878.10:p.Arg365Ile
ENST00000638709.2:c.-77G>T ENSP00000491912.2:n.-77G>T
ENST00000682296.1:n.442G>T
ENST00000682550.1:c.749G>T ENSP00000507633.1:p.Arg250Ile
ENST00000682772.1:c.-77G>T ENSP00000506848.1:n.-77G>T
ENST00000683211.1:c.1094G>T ENSP00000508257.1:p.Arg365Ile
ENST00000683250.1:c.404-11369G>T ENSP00000506847.1:n.404-11369G>T
ENST00000683418.1:n.3441G>T
ENST00000684153.1:c.749G>T ENSP00000506937.1:p.Arg250Ile
ENST00000358487.10:c.1094G>T MANE Select ENSP00000351276.6:p.Arg365Ile
ENST00000336553.10:c.827G>T ENSP00000337665.6:p.Arg276Ile
ENST00000346997.6:c.1094G>T ENSP00000263451.5:p.Arg365Ile
ENST00000351936.10:c.1100G>T ENSP00000309878.9:p.Arg367Ile
ENST00000356226.8:c.749G>T ENSP00000348559.4:p.Arg250Ile
ENST00000357555.9:c.827G>T ENSP00000350166.5:p.Arg276Ile
ENST00000358487.9:c.1094G>T ENSP00000351276.5:p.Arg365Ile
ENST00000360144.7:c.830G>T ENSP00000353262.3:p.Arg277Ile
ENST00000369056.5:c.1097G>T ENSP00000358052.1:p.Arg366Ile
ENST00000369058.7:c.1097G>T ENSP00000358054.3:p.Arg366Ile
ENST00000369059.5:c.752G>T ENSP00000358055.1:p.Arg251Ile
ENST00000369060.8:c.939+4669G>T ENSP00000358056.4:n.939+4669G>T
ENST00000369061.8:c.758G>T ENSP00000358057.4:p.Arg253Ile
ENST00000457416.6:c.1097G>T ENSP00000410294.2:p.Arg366Ile
ENST00000463870.5:n.303G>T
ENST00000478859.5:c.410G>T ENSP00000474011.1:p.Arg137Ile
ENST00000604236.5:c.*141G>T ENSP00000474109.1:n.*141G>T
ENST00000613048.4:c.827G>T ENSP00000484154.1:p.Arg276Ile
NM_000141.4:c.1094G>T NP_000132.3:p.Arg365Ile
NM_001144913.1:c.1097G>T NP_001138385.1:p.Arg366Ile
NM_001144914.1:c.758G>T NP_001138386.1:p.Arg253Ile
NM_001144915.1:c.827G>T NP_001138387.1:p.Arg276Ile
NM_001144916.1:c.749G>T NP_001138388.1:p.Arg250Ile
NM_001144917.1:c.939+4669G>T NP_001138389.1:n.939+4669G>T
NM_001144918.1:c.749G>T NP_001138390.1:p.Arg250Ile
NM_001144919.1:c.830G>T NP_001138391.1:p.Arg277Ile
NM_022970.3:c.1097G>T NP_075259.4:p.Arg366Ile
NM_023029.2:c.827G>T NP_075418.1:p.Arg276Ile
NR_073009.1:n.1544G>T
XM_006717708.2:c.1154G>T XP_006717771.1:p.Arg385Ile
XM_006717709.2:c.1151G>T XP_006717772.1:p.Arg384Ile
XM_006717710.2:c.1154G>T XP_006717773.1:p.Arg385Ile
XM_006717711.2:c.887G>T XP_006717774.1:p.Arg296Ile
XM_006717712.2:c.809G>T XP_006717775.1:p.Arg270Ile
XM_006717713.2:c.1151G>T XP_006717776.1:p.Arg384Ile
XM_011539510.1:c.410G>T XP_011537812.1:p.Arg137Ile
NM_001320654.1:c.410G>T NP_001307583.1:p.Arg137Ile
NM_001320658.1:c.1094G>T NP_001307587.1:p.Arg365Ile
XM_006717708.3:c.1154G>T XP_006717771.1:p.Arg385Ile
XM_006717710.4:c.1154G>T XP_006717773.1:p.Arg385Ile
XM_017015920.2:c.1154G>T XP_016871409.1:p.Arg385Ile
XM_017015921.2:c.1151G>T XP_016871410.1:p.Arg384Ile
XM_017015924.2:c.806G>T XP_016871413.1:p.Arg269Ile
XM_017015925.2:c.806G>T XP_016871414.1:p.Arg269Ile
XM_024447887.1:c.884G>T XP_024303655.1:p.Arg295Ile
XM_024447888.1:c.887G>T XP_024303656.1:p.Arg296Ile
XM_024447889.1:c.884G>T XP_024303657.1:p.Arg295Ile
XM_024447890.1:c.887G>T XP_024303658.1:p.Arg296Ile
XM_024447891.1:c.809G>T XP_024303659.1:p.Arg270Ile
XM_024447892.1:c.-77G>T XP_024303660.1:n.-77G>T
NM_000141.5:c.1094G>T MANE Select NP_000132.3:p.Arg365Ile
NM_001144917.2:c.939+4669G>T NP_001138389.1:n.939+4669G>T
NM_001144918.2:c.749G>T NP_001138390.1:p.Arg250Ile
NM_001144919.2:c.830G>T NP_001138391.1:p.Arg277Ile
NM_001320658.2:c.1094G>T NP_001307587.1:p.Arg365Ile
NR_073009.2:n.1530G>T
NM_001144915.2:c.827G>T NP_001138387.1:p.Arg276Ile
NM_001144916.2:c.749G>T NP_001138388.1:p.Arg250Ile
NM_001320654.2:c.410G>T NP_001307583.1:p.Arg137Ile