Canonical Allele Identifier: CA471647223

Gene: FGFR2

Linked Data

• dbSNP Id: rs1160366427
• gnomAD v2: 10-123247526-G-A
• gnomAD v4: 10-121488012-G-A
• COSMIC: COSM5601492 ; COSM5601493 ; COSM5601494 ; COSM5601495 ; COSM5601496
• MyVariant Identifiers: chr10:g.123247526G>A (hg19) ; chr10:g.121488012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488012G>A , CM000672.2:g.121488012G>A	GRCh38
NC_000010.10:g.123247526G>A , CM000672.1:g.123247526G>A	GRCh37
NC_000010.9:g.123237516G>A	NCBI36
NG_012449.1:g.115447C>T
NG_012449.2:g.115447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1968C>T MANE Plus Clinical	ENSP00000410294.2:p.Asp656=
ENST00000351936.11:c.1959C>T	ENSP00000309878.10:p.Asp653=
ENST00000638709.2:c.789C>T	ENSP00000491912.2:p.Asp263=
ENST00000682296.1:n.1307C>T
ENST00000682550.1:c.1614C>T	ENSP00000507633.1:p.Asp538=
ENST00000682772.1:c.789C>T	ENSP00000506848.1:p.Asp263=
ENST00000682904.1:n.785C>T
ENST00000683029.1:n.377C>T
ENST00000683211.1:c.1959C>T	ENSP00000508257.1:p.Asp653=
ENST00000683250.1:c.*667C>T	ENSP00000506847.1:n.*667C>T
ENST00000683418.1:n.4306C>T
ENST00000684153.1:c.1614C>T	ENSP00000506937.1:p.Asp538=
ENST00000684516.1:n.2978C>T
ENST00000358487.10:c.1965C>T MANE Select	ENSP00000351276.6:p.Asp655=
ENST00000336553.10:c.1692C>T	ENSP00000337665.6:p.Asp564=
ENST00000346997.6:c.1959C>T	ENSP00000263451.5:p.Asp653=
ENST00000351936.10:c.1965C>T	ENSP00000309878.9:p.Asp655=
ENST00000356226.8:c.1614C>T	ENSP00000348559.4:p.Asp538=
ENST00000357555.9:c.1698C>T	ENSP00000350166.5:p.Asp566=
ENST00000358487.9:c.1965C>T	ENSP00000351276.5:p.Asp655=
ENST00000360144.7:c.1701C>T	ENSP00000353262.3:p.Asp567=
ENST00000369056.5:c.1968C>T	ENSP00000358052.1:p.Asp656=
ENST00000369058.7:c.1968C>T	ENSP00000358054.3:p.Asp656=
ENST00000369059.5:c.1623C>T	ENSP00000358055.1:p.Asp541=
ENST00000369060.8:c.1617C>T	ENSP00000358056.4:p.Asp539=
ENST00000369061.8:c.1629C>T	ENSP00000358057.4:p.Asp543=
ENST00000429361.5:c.741C>T	ENSP00000404219.1:p.Asp247=
ENST00000457416.6:c.1968C>T	ENSP00000410294.2:p.Asp656=
ENST00000478859.5:c.1281C>T	ENSP00000474011.1:p.Asp427=
ENST00000604236.5:c.*1012C>T	ENSP00000474109.1:n.*1012C>T
ENST00000613048.4:c.1698C>T	ENSP00000484154.1:p.Asp566=
NM_000141.4:c.1965C>T	NP_000132.3:p.Asp655=
NM_001144913.1:c.1968C>T	NP_001138385.1:p.Asp656=
NM_001144914.1:c.1629C>T	NP_001138386.1:p.Asp543=
NM_001144915.1:c.1698C>T	NP_001138387.1:p.Asp566=
NM_001144916.1:c.1620C>T	NP_001138388.1:p.Asp540=
NM_001144917.1:c.1617C>T	NP_001138389.1:p.Asp539=
NM_001144918.1:c.1614C>T	NP_001138390.1:p.Asp538=
NM_001144919.1:c.1701C>T	NP_001138391.1:p.Asp567=
NM_022970.3:c.1968C>T	NP_075259.4:p.Asp656=
NM_023029.2:c.1698C>T	NP_075418.1:p.Asp566=
NR_073009.1:n.2415C>T
XM_006717708.2:c.2019C>T	XP_006717771.1:p.Asp673=
XM_006717709.2:c.2016C>T	XP_006717772.1:p.Asp672=
XM_006717710.2:c.2025C>T	XP_006717773.1:p.Asp675=
XM_006717711.2:c.1758C>T	XP_006717774.1:p.Asp586=
XM_006717712.2:c.1680C>T	XP_006717775.1:p.Asp560=
XM_006717713.2:c.2022C>T	XP_006717776.1:p.Asp674=
XM_011539510.1:c.1281C>T	XP_011537812.1:p.Asp427=
NM_001320654.1:c.1281C>T	NP_001307583.1:p.Asp427=
NM_001320658.1:c.1959C>T	NP_001307587.1:p.Asp653=
XM_006717708.3:c.2019C>T	XP_006717771.1:p.Asp673=
XM_006717710.4:c.2025C>T	XP_006717773.1:p.Asp675=
XM_017015920.2:c.2019C>T	XP_016871409.1:p.Asp673=
XM_017015921.2:c.2016C>T	XP_016871410.1:p.Asp672=
XM_017015924.2:c.1677C>T	XP_016871413.1:p.Asp559=
XM_017015925.2:c.1671C>T	XP_016871414.1:p.Asp557=
XM_024447887.1:c.1755C>T	XP_024303655.1:p.Asp585=
XM_024447888.1:c.1752C>T	XP_024303656.1:p.Asp584=
XM_024447889.1:c.1749C>T	XP_024303657.1:p.Asp583=
XM_024447890.1:c.1758C>T	XP_024303658.1:p.Asp586=
XM_024447891.1:c.1680C>T	XP_024303659.1:p.Asp560=
XM_024447892.1:c.795C>T	XP_024303660.1:p.Asp265=
NM_000141.5:c.1965C>T MANE Select	NP_000132.3:p.Asp655=
NM_001144917.2:c.1617C>T	NP_001138389.1:p.Asp539=
NM_001144918.2:c.1614C>T	NP_001138390.1:p.Asp538=
NM_001144919.2:c.1701C>T	NP_001138391.1:p.Asp567=
NM_001320658.2:c.1959C>T	NP_001307587.1:p.Asp653=
NR_073009.2:n.2401C>T
NM_001144915.2:c.1698C>T	NP_001138387.1:p.Asp566=
NM_001144916.2:c.1620C>T	NP_001138388.1:p.Asp540=
NM_001320654.2:c.1281C>T	NP_001307583.1:p.Asp427=