Canonical Allele Identifier: CA378327644
Gene: FGFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517324A>T , CM000672.2:g.121517324A>T GRCh38
NC_000010.10:g.123276838A>T , CM000672.1:g.123276838A>T GRCh37
NC_000010.9:g.123266828A>T NCBI36
NG_012449.1:g.86135T>A
NG_012449.2:g.86135T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358487.10:c.1079T>A MANE Select ENSP00000351276.6:p.Leu360Gln
ENST00000336553.10:c.812T>A ENSP00000337665.6:p.Leu271Gln
ENST00000346997.6:c.1079T>A ENSP00000263451.5:p.Leu360Gln
ENST00000351936.10:c.1085T>A ENSP00000309878.9:p.Leu362Gln
ENST00000356226.8:c.734T>A ENSP00000348559.4:p.Leu245Gln
ENST00000357555.9:c.812T>A ENSP00000350166.5:p.Leu271Gln
ENST00000358487.9:c.1079T>A ENSP00000351276.5:p.Leu360Gln
ENST00000360144.7:c.820+1358T>A ENSP00000353262.3:p.=
ENST00000369056.5:c.1087+1358T>A ENSP00000358052.1:p.=
ENST00000369058.7:c.1087+1358T>A ENSP00000358054.3:p.=
ENST00000369059.5:c.742+1358T>A ENSP00000358055.1:p.=
ENST00000369060.8:c.939+2655T>A ENSP00000358056.4:p.=
ENST00000369061.8:c.749-2005T>A ENSP00000358057.4:p.=
ENST00000457416.6:c.1087+1358T>A ENSP00000410294.2:p.=
ENST00000463870.5:n.288T>A
ENST00000478859.5:c.395T>A ENSP00000474011.1:p.Leu132Gln
ENST00000604236.5:c.*126T>A ENSP00000474109.1:p.=
ENST00000613048.4:c.812T>A ENSP00000484154.1:p.Leu271Gln
NM_000141.4:c.1079T>A NP_000132.3:p.Leu360Gln
NM_001144913.1:c.1087+1358T>A NP_001138385.1:p.=
NM_001144914.1:c.749-2005T>A NP_001138386.1:p.=
NM_001144915.1:c.812T>A NP_001138387.1:p.Leu271Gln
NM_001144916.1:c.734T>A NP_001138388.1:p.Leu245Gln
NM_001144917.1:c.939+2655T>A NP_001138389.1:p.=
NM_001144918.1:c.734T>A NP_001138390.1:p.Leu245Gln
NM_001144919.1:c.820+1358T>A NP_001138391.1:p.=
NM_022970.3:c.1087+1358T>A NP_075259.4:p.=
NM_023029.2:c.812T>A NP_075418.1:p.Leu271Gln
NR_073009.1:n.1529T>A
XM_006717708.2:c.1144+1358T>A XP_006717771.1:p.=
XM_006717709.2:c.1136T>A XP_006717772.1:p.Leu379Gln
XM_006717710.2:c.1144+1358T>A XP_006717773.1:p.=
XM_006717711.2:c.877+1358T>A XP_006717774.1:p.=
XM_006717712.2:c.799+1358T>A XP_006717775.1:p.=
XM_006717713.2:c.1136T>A XP_006717776.1:p.Leu379Gln
XM_011539510.1:c.395T>A XP_011537812.1:p.Leu132Gln
NM_001320654.1:c.395T>A NP_001307583.1:p.Leu132Gln
NM_001320658.1:c.1079T>A NP_001307587.1:p.Leu360Gln
XM_006717708.3:c.1144+1358T>A XP_006717771.1:p.=
XM_006717710.4:c.1144+1358T>A XP_006717773.1:p.=
XM_017015920.2:c.1144+1358T>A XP_016871409.1:p.=
XM_017015921.2:c.1136T>A XP_016871410.1:p.Leu379Gln
XM_017015924.2:c.791T>A XP_016871413.1:p.Leu264Gln
XM_017015925.2:c.791T>A XP_016871414.1:p.Leu264Gln
XM_024447887.1:c.869T>A XP_024303655.1:p.Leu290Gln
XM_024447888.1:c.877+1358T>A XP_024303656.1:p.=
XM_024447889.1:c.869T>A XP_024303657.1:p.Leu290Gln
XM_024447890.1:c.877+1358T>A XP_024303658.1:p.=
XM_024447891.1:c.799+1358T>A XP_024303659.1:p.=
XM_024447892.1:c.-92T>A XP_024303660.1:p.=
NM_000141.5:c.1079T>A MANE Select NP_000132.3:p.Leu360Gln
NM_001144917.2:c.939+2655T>A NP_001138389.1:p.=
NM_001144918.2:c.734T>A NP_001138390.1:p.Leu245Gln
NM_001144919.2:c.820+1358T>A NP_001138391.1:p.=
NM_001320658.2:c.1079T>A NP_001307587.1:p.Leu360Gln
NR_073009.2:n.1515T>A
NM_001144915.2:c.812T>A NP_001138387.1:p.Leu271Gln
NM_001144916.2:c.734T>A NP_001138388.1:p.Leu245Gln
NM_001320654.2:c.395T>A NP_001307583.1:p.Leu132Gln