Canonical Allele Identifier: CA471649492
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2133977248
MyVariant Identifiers: chr10:g.123258112G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121498598G>A , CM000672.2:g.121498598G>A GRCh38
NC_000010.10:g.123258112G>A , CM000672.1:g.123258112G>A GRCh37
NC_000010.9:g.123248102G>A NCBI36
NG_012449.1:g.104861C>T
NG_012449.2:g.104861C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1572C>T MANE Plus Clinical ENSP00000410294.2:p.Ala524=
ENST00000351936.11:c.1563C>T ENSP00000309878.10:p.Ala521=
ENST00000638709.2:c.393C>T ENSP00000491912.2:p.Ala131=
ENST00000682296.1:n.911C>T
ENST00000682550.1:c.1218C>T ENSP00000507633.1:p.Ala406=
ENST00000682772.1:c.393C>T ENSP00000506848.1:p.Ala131=
ENST00000682904.1:n.389C>T
ENST00000683211.1:c.1563C>T ENSP00000508257.1:p.Ala521=
ENST00000683250.1:c.*271C>T ENSP00000506847.1:n.*271C>T
ENST00000683418.1:n.3910C>T
ENST00000684153.1:c.1218C>T ENSP00000506937.1:p.Ala406=
ENST00000684516.1:n.2582C>T
ENST00000358487.10:c.1569C>T MANE Select ENSP00000351276.6:p.Ala523=
ENST00000336553.10:c.1296C>T ENSP00000337665.6:p.Ala432=
ENST00000346997.6:c.1563C>T ENSP00000263451.5:p.Ala521=
ENST00000351936.10:c.1569C>T ENSP00000309878.9:p.Ala523=
ENST00000356226.8:c.1218C>T ENSP00000348559.4:p.Ala406=
ENST00000357555.9:c.1302C>T ENSP00000350166.5:p.Ala434=
ENST00000358487.9:c.1569C>T ENSP00000351276.5:p.Ala523=
ENST00000360144.7:c.1305C>T ENSP00000353262.3:p.Ala435=
ENST00000369056.5:c.1572C>T ENSP00000358052.1:p.Ala524=
ENST00000369058.7:c.1572C>T ENSP00000358054.3:p.Ala524=
ENST00000369059.5:c.1227C>T ENSP00000358055.1:p.Ala409=
ENST00000369060.8:c.1221C>T ENSP00000358056.4:p.Ala407=
ENST00000369061.8:c.1233C>T ENSP00000358057.4:p.Ala411=
ENST00000429361.5:c.345C>T ENSP00000404219.1:p.Ala115=
ENST00000457416.6:c.1572C>T ENSP00000410294.2:p.Ala524=
ENST00000478859.5:c.885C>T ENSP00000474011.1:p.Ala295=
ENST00000604236.5:c.*616C>T ENSP00000474109.1:n.*616C>T
ENST00000613048.4:c.1302C>T ENSP00000484154.1:p.Ala434=
NM_000141.4:c.1569C>T NP_000132.3:p.Ala523=
NM_001144913.1:c.1572C>T NP_001138385.1:p.Ala524=
NM_001144914.1:c.1233C>T NP_001138386.1:p.Ala411=
NM_001144915.1:c.1302C>T NP_001138387.1:p.Ala434=
NM_001144916.1:c.1224C>T NP_001138388.1:p.Ala408=
NM_001144917.1:c.1221C>T NP_001138389.1:p.Ala407=
NM_001144918.1:c.1218C>T NP_001138390.1:p.Ala406=
NM_001144919.1:c.1305C>T NP_001138391.1:p.Ala435=
NM_022970.3:c.1572C>T NP_075259.4:p.Ala524=
NM_023029.2:c.1302C>T NP_075418.1:p.Ala434=
NR_073009.1:n.2019C>T
XM_006717708.2:c.1623C>T XP_006717771.1:p.Ala541=
XM_006717709.2:c.1620C>T XP_006717772.1:p.Ala540=
XM_006717710.2:c.1629C>T XP_006717773.1:p.Ala543=
XM_006717711.2:c.1362C>T XP_006717774.1:p.Ala454=
XM_006717712.2:c.1284C>T XP_006717775.1:p.Ala428=
XM_006717713.2:c.1626C>T XP_006717776.1:p.Ala542=
XM_011539510.1:c.885C>T XP_011537812.1:p.Ala295=
NM_001320654.1:c.885C>T NP_001307583.1:p.Ala295=
NM_001320658.1:c.1563C>T NP_001307587.1:p.Ala521=
XM_006717708.3:c.1623C>T XP_006717771.1:p.Ala541=
XM_006717710.4:c.1629C>T XP_006717773.1:p.Ala543=
XM_017015920.2:c.1623C>T XP_016871409.1:p.Ala541=
XM_017015921.2:c.1620C>T XP_016871410.1:p.Ala540=
XM_017015924.2:c.1281C>T XP_016871413.1:p.Ala427=
XM_017015925.2:c.1275C>T XP_016871414.1:p.Ala425=
XM_024447887.1:c.1359C>T XP_024303655.1:p.Ala453=
XM_024447888.1:c.1356C>T XP_024303656.1:p.Ala452=
XM_024447889.1:c.1353C>T XP_024303657.1:p.Ala451=
XM_024447890.1:c.1362C>T XP_024303658.1:p.Ala454=
XM_024447891.1:c.1284C>T XP_024303659.1:p.Ala428=
XM_024447892.1:c.399C>T XP_024303660.1:p.Ala133=
NM_000141.5:c.1569C>T MANE Select NP_000132.3:p.Ala523=
NM_001144917.2:c.1221C>T NP_001138389.1:p.Ala407=
NM_001144918.2:c.1218C>T NP_001138390.1:p.Ala406=
NM_001144919.2:c.1305C>T NP_001138391.1:p.Ala435=
NM_001320658.2:c.1563C>T NP_001307587.1:p.Ala521=
NR_073009.2:n.2005C>T
NM_001144915.2:c.1302C>T NP_001138387.1:p.Ala434=
NM_001144916.2:c.1224C>T NP_001138388.1:p.Ala408=
NM_001320654.2:c.885C>T NP_001307583.1:p.Ala295=