Canonical Allele Identifier: CA10587075
Gene: FGFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 255313
ClinVar RCV Id: RCV000248224
dbSNP Id: rs886038254

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.121517392A>G , CM000672.2:g.121517392A>G GRCh38
NC_000010.10:g.123276906A>G , CM000672.1:g.123276906A>G GRCh37
NC_000010.9:g.123266896A>G NCBI36
NG_012449.1:g.86067T>C
NG_012449.2:g.86067T>C

Transcript Alleles

HGVS Amino-acid change
NM_000141.4:c.1011T>C NP_000132.3:p.Ala337=
NM_001144913.1:c.1087+1290T>C NP_001138385.1:p.=
NM_001144914.1:c.749-2073T>C NP_001138386.1:p.=
NM_001144915.1:c.744T>C NP_001138387.1:p.Ala248=
NM_001144916.1:c.666T>C NP_001138388.1:p.Ala222=
NM_001144917.1:c.939+2587T>C NP_001138389.1:p.=
NM_001144918.1:c.666T>C NP_001138390.1:p.Ala222=
NM_001144919.1:c.820+1290T>C NP_001138391.1:p.=
NM_022970.3:c.1087+1290T>C NP_075259.4:p.=
NM_023029.2:c.744T>C NP_075418.1:p.Ala248=
NR_073009.1:n.1461T>C
XM_006717708.2:c.1144+1290T>C XP_006717771.1:p.=
XM_006717709.2:c.1068T>C XP_006717772.1:p.Ala356=
XM_006717710.2:c.1144+1290T>C XP_006717773.1:p.=
XM_006717711.2:c.877+1290T>C XP_006717774.1:p.=
XM_006717712.2:c.799+1290T>C XP_006717775.1:p.=
XM_006717713.2:c.1068T>C XP_006717776.1:p.Ala356=
XM_011539510.1:c.327T>C XP_011537812.1:p.Ala109=
NM_001320654.1:c.327T>C NP_001307583.1:p.Ala109=
NM_001320658.1:c.1011T>C NP_001307587.1:p.Ala337=
XM_006717708.3:c.1144+1290T>C XP_006717771.1:p.=
XM_006717710.4:c.1144+1290T>C XP_006717773.1:p.=
XM_017015920.2:c.1144+1290T>C XP_016871409.1:p.=
XM_017015921.2:c.1068T>C XP_016871410.1:p.Ala356=
XM_017015924.2:c.723T>C XP_016871413.1:p.Ala241=
XM_017015925.2:c.723T>C XP_016871414.1:p.Ala241=
XM_024447887.1:c.801T>C XP_024303655.1:p.Ala267=
XM_024447888.1:c.877+1290T>C XP_024303656.1:p.=
XM_024447889.1:c.801T>C XP_024303657.1:p.Ala267=
XM_024447890.1:c.877+1290T>C XP_024303658.1:p.=
XM_024447891.1:c.799+1290T>C XP_024303659.1:p.=
XM_024447892.1:c.-160T>C XP_024303660.1:p.=
NM_000141.5:c.1011T>C MANE Select NP_000132.3:p.Ala337=
NM_001144917.2:c.939+2587T>C NP_001138389.1:p.=
NM_001144918.2:c.666T>C NP_001138390.1:p.Ala222=
NM_001144919.2:c.820+1290T>C NP_001138391.1:p.=
NM_001320658.2:c.1011T>C NP_001307587.1:p.Ala337=
NR_073009.2:n.1447T>C
NM_001144915.2:c.744T>C NP_001138387.1:p.Ala248=
NM_001144916.2:c.666T>C NP_001138388.1:p.Ala222=
NM_001320654.2:c.327T>C NP_001307583.1:p.Ala109=
ENST00000336553.10:c.744T>C ENSP00000337665.6:p.Ala248=
ENST00000346997.6:c.1011T>C ENSP00000263451.5:p.Ala337=
ENST00000351936.10:c.1017T>C ENSP00000309878.9:p.Ala339=
ENST00000356226.8:c.666T>C ENSP00000348559.4:p.Ala222=
ENST00000357555.9:c.744T>C ENSP00000350166.5:p.Ala248=
ENST00000358487.9:c.1011T>C ENSP00000351276.5:p.Ala337=
ENST00000360144.7:c.820+1290T>C ENSP00000353262.3:p.=
ENST00000369056.5:c.1087+1290T>C ENSP00000358052.1:p.=
ENST00000369058.7:c.1087+1290T>C ENSP00000358054.3:p.=
ENST00000369059.5:c.742+1290T>C ENSP00000358055.1:p.=
ENST00000369060.8:c.939+2587T>C ENSP00000358056.4:p.=
ENST00000369061.8:c.749-2073T>C ENSP00000358057.4:p.=
ENST00000457416.6:c.1087+1290T>C ENSP00000410294.2:p.=
ENST00000463870.5:n.220T>C
ENST00000478859.5:c.327T>C ENSP00000474011.1:p.Ala109=
ENST00000490349.5:n.1420T>C
ENST00000604236.5:c.*58T>C ENSP00000474109.1:p.=
ENST00000613048.4:c.744T>C ENSP00000484154.1:p.Ala248=