Canonical Allele Identifier: CA471647368
Gene: FGFR2 HGNC NCBI

Linked Data

dbSNP Id: rs2133838437
MyVariant Identifiers: chr10:g.123247595A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121488081A>G , CM000672.2:g.121488081A>G GRCh38
NC_000010.10:g.123247595A>G , CM000672.1:g.123247595A>G GRCh37
NC_000010.9:g.123237585A>G NCBI36
NG_012449.1:g.115378T>C
NG_012449.2:g.115378T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000457416.7:c.1899T>C MANE Plus Clinical ENSP00000410294.2:p.Val633=
ENST00000351936.11:c.1890T>C ENSP00000309878.10:p.Val630=
ENST00000638709.2:c.720T>C ENSP00000491912.2:p.Val240=
ENST00000682296.1:n.1238T>C
ENST00000682550.1:c.1545T>C ENSP00000507633.1:p.Val515=
ENST00000682772.1:c.720T>C ENSP00000506848.1:p.Val240=
ENST00000682904.1:n.716T>C
ENST00000683029.1:n.308T>C
ENST00000683211.1:c.1890T>C ENSP00000508257.1:p.Val630=
ENST00000683250.1:c.*598T>C ENSP00000506847.1:n.*598T>C
ENST00000683418.1:n.4237T>C
ENST00000684153.1:c.1545T>C ENSP00000506937.1:p.Val515=
ENST00000684516.1:n.2909T>C
ENST00000358487.10:c.1896T>C MANE Select ENSP00000351276.6:p.Val632=
ENST00000336553.10:c.1623T>C ENSP00000337665.6:p.Val541=
ENST00000346997.6:c.1890T>C ENSP00000263451.5:p.Val630=
ENST00000351936.10:c.1896T>C ENSP00000309878.9:p.Val632=
ENST00000356226.8:c.1545T>C ENSP00000348559.4:p.Val515=
ENST00000357555.9:c.1629T>C ENSP00000350166.5:p.Val543=
ENST00000358487.9:c.1896T>C ENSP00000351276.5:p.Val632=
ENST00000360144.7:c.1632T>C ENSP00000353262.3:p.Val544=
ENST00000369056.5:c.1899T>C ENSP00000358052.1:p.Val633=
ENST00000369058.7:c.1899T>C ENSP00000358054.3:p.Val633=
ENST00000369059.5:c.1554T>C ENSP00000358055.1:p.Val518=
ENST00000369060.8:c.1548T>C ENSP00000358056.4:p.Val516=
ENST00000369061.8:c.1560T>C ENSP00000358057.4:p.Val520=
ENST00000429361.5:c.672T>C ENSP00000404219.1:p.Val224=
ENST00000457416.6:c.1899T>C ENSP00000410294.2:p.Val633=
ENST00000478859.5:c.1212T>C ENSP00000474011.1:p.Val404=
ENST00000604236.5:c.*943T>C ENSP00000474109.1:n.*943T>C
ENST00000613048.4:c.1629T>C ENSP00000484154.1:p.Val543=
NM_000141.4:c.1896T>C NP_000132.3:p.Val632=
NM_001144913.1:c.1899T>C NP_001138385.1:p.Val633=
NM_001144914.1:c.1560T>C NP_001138386.1:p.Val520=
NM_001144915.1:c.1629T>C NP_001138387.1:p.Val543=
NM_001144916.1:c.1551T>C NP_001138388.1:p.Val517=
NM_001144917.1:c.1548T>C NP_001138389.1:p.Val516=
NM_001144918.1:c.1545T>C NP_001138390.1:p.Val515=
NM_001144919.1:c.1632T>C NP_001138391.1:p.Val544=
NM_022970.3:c.1899T>C NP_075259.4:p.Val633=
NM_023029.2:c.1629T>C NP_075418.1:p.Val543=
NR_073009.1:n.2346T>C
XM_006717708.2:c.1950T>C XP_006717771.1:p.Val650=
XM_006717709.2:c.1947T>C XP_006717772.1:p.Val649=
XM_006717710.2:c.1956T>C XP_006717773.1:p.Val652=
XM_006717711.2:c.1689T>C XP_006717774.1:p.Val563=
XM_006717712.2:c.1611T>C XP_006717775.1:p.Val537=
XM_006717713.2:c.1953T>C XP_006717776.1:p.Val651=
XM_011539510.1:c.1212T>C XP_011537812.1:p.Val404=
NM_001320654.1:c.1212T>C NP_001307583.1:p.Val404=
NM_001320658.1:c.1890T>C NP_001307587.1:p.Val630=
XM_006717708.3:c.1950T>C XP_006717771.1:p.Val650=
XM_006717710.4:c.1956T>C XP_006717773.1:p.Val652=
XM_017015920.2:c.1950T>C XP_016871409.1:p.Val650=
XM_017015921.2:c.1947T>C XP_016871410.1:p.Val649=
XM_017015924.2:c.1608T>C XP_016871413.1:p.Val536=
XM_017015925.2:c.1602T>C XP_016871414.1:p.Val534=
XM_024447887.1:c.1686T>C XP_024303655.1:p.Val562=
XM_024447888.1:c.1683T>C XP_024303656.1:p.Val561=
XM_024447889.1:c.1680T>C XP_024303657.1:p.Val560=
XM_024447890.1:c.1689T>C XP_024303658.1:p.Val563=
XM_024447891.1:c.1611T>C XP_024303659.1:p.Val537=
XM_024447892.1:c.726T>C XP_024303660.1:p.Val242=
NM_000141.5:c.1896T>C MANE Select NP_000132.3:p.Val632=
NM_001144917.2:c.1548T>C NP_001138389.1:p.Val516=
NM_001144918.2:c.1545T>C NP_001138390.1:p.Val515=
NM_001144919.2:c.1632T>C NP_001138391.1:p.Val544=
NM_001320658.2:c.1890T>C NP_001307587.1:p.Val630=
NR_073009.2:n.2332T>C
NM_001144915.2:c.1629T>C NP_001138387.1:p.Val543=
NM_001144916.2:c.1551T>C NP_001138388.1:p.Val517=
NM_001320654.2:c.1212T>C NP_001307583.1:p.Val404=