Canonical Allele Identifier: CA378326969

Gene: FGFR2

Linked Data

• dbSNP Id: rs1291747099
• gnomAD v3: 10-121515136-G-A
• gnomAD v4: 10-121515136-G-A
• MyVariant Identifiers: chr10:g.123274650G>A (hg19) ; chr10:g.121515136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515136G>A , CM000672.2:g.121515136G>A	GRCh38
NC_000010.10:g.123274650G>A , CM000672.1:g.123274650G>A	GRCh37
NC_000010.9:g.123264640G>A	NCBI36
NG_012449.1:g.88323C>T
NG_012449.2:g.88323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1271C>T MANE Plus Clinical	ENSP00000410294.2:p.Pro424Leu
ENST00000351936.11:c.1268C>T	ENSP00000309878.10:p.Pro423Leu
ENST00000638709.2:c.98C>T	ENSP00000491912.2:p.Pro33Leu
ENST00000682296.1:n.616C>T
ENST00000682550.1:c.923C>T	ENSP00000507633.1:p.Pro308Leu
ENST00000682772.1:c.98C>T	ENSP00000506848.1:p.Pro33Leu
ENST00000683211.1:c.1268C>T	ENSP00000508257.1:p.Pro423Leu
ENST00000683250.1:c.404-11195C>T	ENSP00000506847.1:n.404-11195C>T
ENST00000683418.1:n.3615C>T
ENST00000684153.1:c.923C>T	ENSP00000506937.1:p.Pro308Leu
ENST00000358487.10:c.1268C>T MANE Select	ENSP00000351276.6:p.Pro423Leu
ENST00000336553.10:c.1001C>T	ENSP00000337665.6:p.Pro334Leu
ENST00000346997.6:c.1268C>T	ENSP00000263451.5:p.Pro423Leu
ENST00000351936.10:c.1274C>T	ENSP00000309878.9:p.Pro425Leu
ENST00000356226.8:c.923C>T	ENSP00000348559.4:p.Pro308Leu
ENST00000357555.9:c.1001C>T	ENSP00000350166.5:p.Pro334Leu
ENST00000358487.9:c.1268C>T	ENSP00000351276.5:p.Pro423Leu
ENST00000360144.7:c.1004C>T	ENSP00000353262.3:p.Pro335Leu
ENST00000369056.5:c.1271C>T	ENSP00000358052.1:p.Pro424Leu
ENST00000369058.7:c.1271C>T	ENSP00000358054.3:p.Pro424Leu
ENST00000369059.5:c.926C>T	ENSP00000358055.1:p.Pro309Leu
ENST00000369060.8:c.939+4843C>T	ENSP00000358056.4:n.939+4843C>T
ENST00000369061.8:c.932C>T	ENSP00000358057.4:p.Pro311Leu
ENST00000429361.5:c.44C>T	ENSP00000404219.1:p.Pro15Leu
ENST00000457416.6:c.1271C>T	ENSP00000410294.2:p.Pro424Leu
ENST00000478859.5:c.584C>T	ENSP00000474011.1:p.Pro195Leu
ENST00000604236.5:c.*315C>T	ENSP00000474109.1:n.*315C>T
ENST00000613048.4:c.1001C>T	ENSP00000484154.1:p.Pro334Leu
NM_000141.4:c.1268C>T	NP_000132.3:p.Pro423Leu
NM_001144913.1:c.1271C>T	NP_001138385.1:p.Pro424Leu
NM_001144914.1:c.932C>T	NP_001138386.1:p.Pro311Leu
NM_001144915.1:c.1001C>T	NP_001138387.1:p.Pro334Leu
NM_001144916.1:c.923C>T	NP_001138388.1:p.Pro308Leu
NM_001144917.1:c.939+4843C>T	NP_001138389.1:n.939+4843C>T
NM_001144918.1:c.923C>T	NP_001138390.1:p.Pro308Leu
NM_001144919.1:c.1004C>T	NP_001138391.1:p.Pro335Leu
NM_022970.3:c.1271C>T	NP_075259.4:p.Pro424Leu
NM_023029.2:c.1001C>T	NP_075418.1:p.Pro334Leu
NR_073009.1:n.1718C>T
XM_006717708.2:c.1328C>T	XP_006717771.1:p.Pro443Leu
XM_006717709.2:c.1325C>T	XP_006717772.1:p.Pro442Leu
XM_006717710.2:c.1328C>T	XP_006717773.1:p.Pro443Leu
XM_006717711.2:c.1061C>T	XP_006717774.1:p.Pro354Leu
XM_006717712.2:c.983C>T	XP_006717775.1:p.Pro328Leu
XM_006717713.2:c.1325C>T	XP_006717776.1:p.Pro442Leu
XM_011539510.1:c.584C>T	XP_011537812.1:p.Pro195Leu
NM_001320654.1:c.584C>T	NP_001307583.1:p.Pro195Leu
NM_001320658.1:c.1268C>T	NP_001307587.1:p.Pro423Leu
XM_006717708.3:c.1328C>T	XP_006717771.1:p.Pro443Leu
XM_006717710.4:c.1328C>T	XP_006717773.1:p.Pro443Leu
XM_017015920.2:c.1328C>T	XP_016871409.1:p.Pro443Leu
XM_017015921.2:c.1325C>T	XP_016871410.1:p.Pro442Leu
XM_017015924.2:c.980C>T	XP_016871413.1:p.Pro327Leu
XM_017015925.2:c.980C>T	XP_016871414.1:p.Pro327Leu
XM_024447887.1:c.1058C>T	XP_024303655.1:p.Pro353Leu
XM_024447888.1:c.1061C>T	XP_024303656.1:p.Pro354Leu
XM_024447889.1:c.1058C>T	XP_024303657.1:p.Pro353Leu
XM_024447890.1:c.1061C>T	XP_024303658.1:p.Pro354Leu
XM_024447891.1:c.983C>T	XP_024303659.1:p.Pro328Leu
XM_024447892.1:c.98C>T	XP_024303660.1:p.Pro33Leu
NM_000141.5:c.1268C>T MANE Select	NP_000132.3:p.Pro423Leu
NM_001144917.2:c.939+4843C>T	NP_001138389.1:n.939+4843C>T
NM_001144918.2:c.923C>T	NP_001138390.1:p.Pro308Leu
NM_001144919.2:c.1004C>T	NP_001138391.1:p.Pro335Leu
NM_001320658.2:c.1268C>T	NP_001307587.1:p.Pro423Leu
NR_073009.2:n.1704C>T
NM_001144915.2:c.1001C>T	NP_001138387.1:p.Pro334Leu
NM_001144916.2:c.923C>T	NP_001138388.1:p.Pro308Leu
NM_001320654.2:c.584C>T	NP_001307583.1:p.Pro195Leu