Canonical Allele Identifier: CA378327036

Gene: FGFR2

Linked Data

• dbSNP Id: rs2134222569
• gnomAD v4: 10-121515167-G-A
• MyVariant Identifiers: chr10:g.123274681G>A (hg19) ; chr10:g.121515167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515167G>A , CM000672.2:g.121515167G>A	GRCh38
NC_000010.10:g.123274681G>A , CM000672.1:g.123274681G>A	GRCh37
NC_000010.9:g.123264671G>A	NCBI36
NG_012449.1:g.88292C>T
NG_012449.2:g.88292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1240C>T MANE Plus Clinical	ENSP00000410294.2:p.Pro414Ser
ENST00000351936.11:c.1237C>T	ENSP00000309878.10:p.Pro413Ser
ENST00000638709.2:c.67C>T	ENSP00000491912.2:p.Pro23Ser
ENST00000682296.1:n.585C>T
ENST00000682550.1:c.892C>T	ENSP00000507633.1:p.Pro298Ser
ENST00000682772.1:c.67C>T	ENSP00000506848.1:p.Pro23Ser
ENST00000683211.1:c.1237C>T	ENSP00000508257.1:p.Pro413Ser
ENST00000683250.1:c.404-11226C>T	ENSP00000506847.1:n.404-11226C>T
ENST00000683418.1:n.3584C>T
ENST00000684153.1:c.892C>T	ENSP00000506937.1:p.Pro298Ser
ENST00000358487.10:c.1237C>T MANE Select	ENSP00000351276.6:p.Pro413Ser
ENST00000336553.10:c.970C>T	ENSP00000337665.6:p.Pro324Ser
ENST00000346997.6:c.1237C>T	ENSP00000263451.5:p.Pro413Ser
ENST00000351936.10:c.1243C>T	ENSP00000309878.9:p.Pro415Ser
ENST00000356226.8:c.892C>T	ENSP00000348559.4:p.Pro298Ser
ENST00000357555.9:c.970C>T	ENSP00000350166.5:p.Pro324Ser
ENST00000358487.9:c.1237C>T	ENSP00000351276.5:p.Pro413Ser
ENST00000360144.7:c.973C>T	ENSP00000353262.3:p.Pro325Ser
ENST00000369056.5:c.1240C>T	ENSP00000358052.1:p.Pro414Ser
ENST00000369058.7:c.1240C>T	ENSP00000358054.3:p.Pro414Ser
ENST00000369059.5:c.895C>T	ENSP00000358055.1:p.Pro299Ser
ENST00000369060.8:c.939+4812C>T	ENSP00000358056.4:n.939+4812C>T
ENST00000369061.8:c.901C>T	ENSP00000358057.4:p.Pro301Ser
ENST00000429361.5:c.13C>T	ENSP00000404219.1:p.Pro5Ser
ENST00000457416.6:c.1240C>T	ENSP00000410294.2:p.Pro414Ser
ENST00000478859.5:c.553C>T	ENSP00000474011.1:p.Pro185Ser
ENST00000604236.5:c.*284C>T	ENSP00000474109.1:n.*284C>T
ENST00000613048.4:c.970C>T	ENSP00000484154.1:p.Pro324Ser
NM_000141.4:c.1237C>T	NP_000132.3:p.Pro413Ser
NM_001144913.1:c.1240C>T	NP_001138385.1:p.Pro414Ser
NM_001144914.1:c.901C>T	NP_001138386.1:p.Pro301Ser
NM_001144915.1:c.970C>T	NP_001138387.1:p.Pro324Ser
NM_001144916.1:c.892C>T	NP_001138388.1:p.Pro298Ser
NM_001144917.1:c.939+4812C>T	NP_001138389.1:n.939+4812C>T
NM_001144918.1:c.892C>T	NP_001138390.1:p.Pro298Ser
NM_001144919.1:c.973C>T	NP_001138391.1:p.Pro325Ser
NM_022970.3:c.1240C>T	NP_075259.4:p.Pro414Ser
NM_023029.2:c.970C>T	NP_075418.1:p.Pro324Ser
NR_073009.1:n.1687C>T
XM_006717708.2:c.1297C>T	XP_006717771.1:p.Pro433Ser
XM_006717709.2:c.1294C>T	XP_006717772.1:p.Pro432Ser
XM_006717710.2:c.1297C>T	XP_006717773.1:p.Pro433Ser
XM_006717711.2:c.1030C>T	XP_006717774.1:p.Pro344Ser
XM_006717712.2:c.952C>T	XP_006717775.1:p.Pro318Ser
XM_006717713.2:c.1294C>T	XP_006717776.1:p.Pro432Ser
XM_011539510.1:c.553C>T	XP_011537812.1:p.Pro185Ser
NM_001320654.1:c.553C>T	NP_001307583.1:p.Pro185Ser
NM_001320658.1:c.1237C>T	NP_001307587.1:p.Pro413Ser
XM_006717708.3:c.1297C>T	XP_006717771.1:p.Pro433Ser
XM_006717710.4:c.1297C>T	XP_006717773.1:p.Pro433Ser
XM_017015920.2:c.1297C>T	XP_016871409.1:p.Pro433Ser
XM_017015921.2:c.1294C>T	XP_016871410.1:p.Pro432Ser
XM_017015924.2:c.949C>T	XP_016871413.1:p.Pro317Ser
XM_017015925.2:c.949C>T	XP_016871414.1:p.Pro317Ser
XM_024447887.1:c.1027C>T	XP_024303655.1:p.Pro343Ser
XM_024447888.1:c.1030C>T	XP_024303656.1:p.Pro344Ser
XM_024447889.1:c.1027C>T	XP_024303657.1:p.Pro343Ser
XM_024447890.1:c.1030C>T	XP_024303658.1:p.Pro344Ser
XM_024447891.1:c.952C>T	XP_024303659.1:p.Pro318Ser
XM_024447892.1:c.67C>T	XP_024303660.1:p.Pro23Ser
NM_000141.5:c.1237C>T MANE Select	NP_000132.3:p.Pro413Ser
NM_001144917.2:c.939+4812C>T	NP_001138389.1:n.939+4812C>T
NM_001144918.2:c.892C>T	NP_001138390.1:p.Pro298Ser
NM_001144919.2:c.973C>T	NP_001138391.1:p.Pro325Ser
NM_001320658.2:c.1237C>T	NP_001307587.1:p.Pro413Ser
NR_073009.2:n.1673C>T
NM_001144915.2:c.970C>T	NP_001138387.1:p.Pro324Ser
NM_001144916.2:c.892C>T	NP_001138388.1:p.Pro298Ser
NM_001320654.2:c.553C>T	NP_001307583.1:p.Pro185Ser