Canonical Allele Identifier: CA378327049

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123274686C>A (hg19) ; chr10:g.121515172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515172C>A , CM000672.2:g.121515172C>A	GRCh38
NC_000010.10:g.123274686C>A , CM000672.1:g.123274686C>A	GRCh37
NC_000010.9:g.123264676C>A	NCBI36
NG_012449.1:g.88287G>T
NG_012449.2:g.88287G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1235G>T MANE Plus Clinical	ENSP00000410294.2:p.Ser412Ile
ENST00000351936.11:c.1232G>T	ENSP00000309878.10:p.Ser411Ile
ENST00000638709.2:c.62G>T	ENSP00000491912.2:p.Ser21Ile
ENST00000682296.1:n.580G>T
ENST00000682550.1:c.887G>T	ENSP00000507633.1:p.Ser296Ile
ENST00000682772.1:c.62G>T	ENSP00000506848.1:p.Ser21Ile
ENST00000683211.1:c.1232G>T	ENSP00000508257.1:p.Ser411Ile
ENST00000683250.1:c.404-11231G>T	ENSP00000506847.1:n.404-11231G>T
ENST00000683418.1:n.3579G>T
ENST00000684153.1:c.887G>T	ENSP00000506937.1:p.Ser296Ile
ENST00000358487.10:c.1232G>T MANE Select	ENSP00000351276.6:p.Ser411Ile
ENST00000336553.10:c.965G>T	ENSP00000337665.6:p.Ser322Ile
ENST00000346997.6:c.1232G>T	ENSP00000263451.5:p.Ser411Ile
ENST00000351936.10:c.1238G>T	ENSP00000309878.9:p.Ser413Ile
ENST00000356226.8:c.887G>T	ENSP00000348559.4:p.Ser296Ile
ENST00000357555.9:c.965G>T	ENSP00000350166.5:p.Ser322Ile
ENST00000358487.9:c.1232G>T	ENSP00000351276.5:p.Ser411Ile
ENST00000360144.7:c.968G>T	ENSP00000353262.3:p.Ser323Ile
ENST00000369056.5:c.1235G>T	ENSP00000358052.1:p.Ser412Ile
ENST00000369058.7:c.1235G>T	ENSP00000358054.3:p.Ser412Ile
ENST00000369059.5:c.890G>T	ENSP00000358055.1:p.Ser297Ile
ENST00000369060.8:c.939+4807G>T	ENSP00000358056.4:n.939+4807G>T
ENST00000369061.8:c.896G>T	ENSP00000358057.4:p.Ser299Ile
ENST00000429361.5:c.8G>T	ENSP00000404219.1:p.Ser3Ile
ENST00000457416.6:c.1235G>T	ENSP00000410294.2:p.Ser412Ile
ENST00000478859.5:c.548G>T	ENSP00000474011.1:p.Ser183Ile
ENST00000604236.5:c.*279G>T	ENSP00000474109.1:n.*279G>T
ENST00000613048.4:c.965G>T	ENSP00000484154.1:p.Ser322Ile
NM_000141.4:c.1232G>T	NP_000132.3:p.Ser411Ile
NM_001144913.1:c.1235G>T	NP_001138385.1:p.Ser412Ile
NM_001144914.1:c.896G>T	NP_001138386.1:p.Ser299Ile
NM_001144915.1:c.965G>T	NP_001138387.1:p.Ser322Ile
NM_001144916.1:c.887G>T	NP_001138388.1:p.Ser296Ile
NM_001144917.1:c.939+4807G>T	NP_001138389.1:n.939+4807G>T
NM_001144918.1:c.887G>T	NP_001138390.1:p.Ser296Ile
NM_001144919.1:c.968G>T	NP_001138391.1:p.Ser323Ile
NM_022970.3:c.1235G>T	NP_075259.4:p.Ser412Ile
NM_023029.2:c.965G>T	NP_075418.1:p.Ser322Ile
NR_073009.1:n.1682G>T
XM_006717708.2:c.1292G>T	XP_006717771.1:p.Ser431Ile
XM_006717709.2:c.1289G>T	XP_006717772.1:p.Ser430Ile
XM_006717710.2:c.1292G>T	XP_006717773.1:p.Ser431Ile
XM_006717711.2:c.1025G>T	XP_006717774.1:p.Ser342Ile
XM_006717712.2:c.947G>T	XP_006717775.1:p.Ser316Ile
XM_006717713.2:c.1289G>T	XP_006717776.1:p.Ser430Ile
XM_011539510.1:c.548G>T	XP_011537812.1:p.Ser183Ile
NM_001320654.1:c.548G>T	NP_001307583.1:p.Ser183Ile
NM_001320658.1:c.1232G>T	NP_001307587.1:p.Ser411Ile
XM_006717708.3:c.1292G>T	XP_006717771.1:p.Ser431Ile
XM_006717710.4:c.1292G>T	XP_006717773.1:p.Ser431Ile
XM_017015920.2:c.1292G>T	XP_016871409.1:p.Ser431Ile
XM_017015921.2:c.1289G>T	XP_016871410.1:p.Ser430Ile
XM_017015924.2:c.944G>T	XP_016871413.1:p.Ser315Ile
XM_017015925.2:c.944G>T	XP_016871414.1:p.Ser315Ile
XM_024447887.1:c.1022G>T	XP_024303655.1:p.Ser341Ile
XM_024447888.1:c.1025G>T	XP_024303656.1:p.Ser342Ile
XM_024447889.1:c.1022G>T	XP_024303657.1:p.Ser341Ile
XM_024447890.1:c.1025G>T	XP_024303658.1:p.Ser342Ile
XM_024447891.1:c.947G>T	XP_024303659.1:p.Ser316Ile
XM_024447892.1:c.62G>T	XP_024303660.1:p.Ser21Ile
NM_000141.5:c.1232G>T MANE Select	NP_000132.3:p.Ser411Ile
NM_001144917.2:c.939+4807G>T	NP_001138389.1:n.939+4807G>T
NM_001144918.2:c.887G>T	NP_001138390.1:p.Ser296Ile
NM_001144919.2:c.968G>T	NP_001138391.1:p.Ser323Ile
NM_001320658.2:c.1232G>T	NP_001307587.1:p.Ser411Ile
NR_073009.2:n.1668G>T
NM_001144915.2:c.965G>T	NP_001138387.1:p.Ser322Ile
NM_001144916.2:c.887G>T	NP_001138388.1:p.Ser296Ile
NM_001320654.2:c.548G>T	NP_001307583.1:p.Ser183Ile