LDH info

Canonical Allele Identifier: CA280176
Gene: FGFR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13274
ClinVar RCV Id: RCV000014194
dbSNP Id: rs121918495

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517382T>G , CM000672.2:g.121517382T>G GRCh38
NC_000010.10:g.123276896T>G , CM000672.1:g.123276896T>G GRCh37
NC_000010.9:g.123266886T>G NCBI36
NG_012449.1:g.86077A>C
NG_012449.2:g.86077A>C

Transcript Alleles

HGVS Amino-acid change
NM_000141.4:c.1021A>C VV NP_000132.3:p.Thr341Pro
NM_001144913.1:c.1087+1300A>C VV NP_001138385.1:p.=
NM_001144914.1:c.749-2063A>C VV NP_001138386.1:p.=
NM_001144915.1:c.754A>C VV NP_001138387.1:p.Thr252Pro
NM_001144916.1:c.676A>C VV NP_001138388.1:p.Thr226Pro
NM_001144917.1:c.939+2597A>C VV NP_001138389.1:p.=
NM_001144918.1:c.676A>C VV NP_001138390.1:p.Thr226Pro
NM_001144919.1:c.820+1300A>C VV NP_001138391.1:p.=
NM_022970.3:c.1087+1300A>C VV NP_075259.4:p.=
NM_023029.2:c.754A>C VV NP_075418.1:p.Thr252Pro
NR_073009.1:n.1471A>C
XM_006717708.2:c.1144+1300A>C XP_006717771.1:p.=
XM_006717709.2:c.1078A>C XP_006717772.1:p.Thr360Pro
XM_006717710.2:c.1144+1300A>C XP_006717773.1:p.=
XM_006717711.2:c.877+1300A>C XP_006717774.1:p.=
XM_006717712.2:c.799+1300A>C XP_006717775.1:p.=
XM_006717713.2:c.1078A>C XP_006717776.1:p.Thr360Pro
XM_011539510.1:c.337A>C XP_011537812.1:p.Thr113Pro
NM_001320654.1:c.337A>C VV NP_001307583.1:p.Thr113Pro
NM_001320658.1:c.1021A>C VV NP_001307587.1:p.Thr341Pro
XM_006717708.3:c.1144+1300A>C XP_006717771.1:p.=
XM_006717710.4:c.1144+1300A>C XP_006717773.1:p.=
XM_017015920.2:c.1144+1300A>C XP_016871409.1:p.=
XM_017015921.2:c.1078A>C XP_016871410.1:p.Thr360Pro
XM_017015924.2:c.733A>C XP_016871413.1:p.Thr245Pro
XM_017015925.2:c.733A>C XP_016871414.1:p.Thr245Pro
XM_024447887.1:c.811A>C XP_024303655.1:p.Thr271Pro
XM_024447888.1:c.877+1300A>C XP_024303656.1:p.=
XM_024447889.1:c.811A>C XP_024303657.1:p.Thr271Pro
XM_024447890.1:c.877+1300A>C XP_024303658.1:p.=
XM_024447891.1:c.799+1300A>C XP_024303659.1:p.=
XM_024447892.1:c.-150A>C XP_024303660.1:p.=
NM_000141.5:c.1021A>C VV MANE Preferred NP_000132.3:p.Thr341Pro
NM_001144917.2:c.939+2597A>C VV NP_001138389.1:p.=
NM_001144918.2:c.676A>C VV NP_001138390.1:p.Thr226Pro
NM_001144919.2:c.820+1300A>C VV NP_001138391.1:p.=
NM_001320658.2:c.1021A>C VV NP_001307587.1:p.Thr341Pro
NR_073009.2:n.1457A>C
ENST00000336553.10:c.754A>C ENSP00000337665.6:p.Thr252Pro
ENST00000346997.6:c.1021A>C ENSP00000263451.5:p.Thr341Pro
ENST00000351936.10:c.1027A>C ENSP00000309878.9:p.Thr343Pro
ENST00000356226.8:c.676A>C ENSP00000348559.4:p.Thr226Pro
ENST00000357555.9:c.754A>C ENSP00000350166.5:p.Thr252Pro
ENST00000358487.9:c.1021A>C ENSP00000351276.5:p.Thr341Pro
ENST00000360144.7:c.820+1300A>C ENSP00000353262.3:p.=
ENST00000369056.5:c.1087+1300A>C ENSP00000358052.1:p.=
ENST00000369058.7:c.1087+1300A>C ENSP00000358054.3:p.=
ENST00000369059.5:c.742+1300A>C ENSP00000358055.1:p.=
ENST00000369060.8:c.939+2597A>C ENSP00000358056.4:p.=
ENST00000369061.8:c.749-2063A>C ENSP00000358057.4:p.=
ENST00000457416.6:c.1087+1300A>C ENSP00000410294.2:p.=
ENST00000463870.5:n.230A>C
ENST00000478859.5:c.337A>C ENSP00000474011.1:p.Thr113Pro
ENST00000490349.5:n.1430A>C
ENST00000604236.5:c.*68A>C ENSP00000474109.1:p.=
ENST00000613048.4:c.754A>C ENSP00000484154.1:p.Thr252Pro