Canonical Allele Identifier: CA378321599

Gene: FGFR2

Linked Data

• gnomAD v4: 10-121498564-T-C
• MyVariant Identifiers: chr10:g.123258078T>C (hg19) ; chr10:g.121498564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498564T>C , CM000672.2:g.121498564T>C	GRCh38
NC_000010.10:g.123258078T>C , CM000672.1:g.123258078T>C	GRCh37
NC_000010.9:g.123248068T>C	NCBI36
NG_012449.1:g.104895A>G
NG_012449.2:g.104895A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1606A>G MANE Plus Clinical	ENSP00000410294.2:p.Met536Val
ENST00000351936.11:c.1597A>G	ENSP00000309878.10:p.Met533Val
ENST00000638709.2:c.427A>G	ENSP00000491912.2:p.Met143Val
ENST00000682296.1:n.945A>G
ENST00000682550.1:c.1252A>G	ENSP00000507633.1:p.Met418Val
ENST00000682772.1:c.427A>G	ENSP00000506848.1:p.Met143Val
ENST00000682904.1:n.423A>G
ENST00000683211.1:c.1597A>G	ENSP00000508257.1:p.Met533Val
ENST00000683250.1:c.*305A>G	ENSP00000506847.1:n.*305A>G
ENST00000683418.1:n.3944A>G
ENST00000684153.1:c.1252A>G	ENSP00000506937.1:p.Met418Val
ENST00000684516.1:n.2616A>G
ENST00000358487.10:c.1603A>G MANE Select	ENSP00000351276.6:p.Met535Val
ENST00000336553.10:c.1330A>G	ENSP00000337665.6:p.Met444Val
ENST00000346997.6:c.1597A>G	ENSP00000263451.5:p.Met533Val
ENST00000351936.10:c.1603A>G	ENSP00000309878.9:p.Met535Val
ENST00000356226.8:c.1252A>G	ENSP00000348559.4:p.Met418Val
ENST00000357555.9:c.1336A>G	ENSP00000350166.5:p.Met446Val
ENST00000358487.9:c.1603A>G	ENSP00000351276.5:p.Met535Val
ENST00000360144.7:c.1339A>G	ENSP00000353262.3:p.Met447Val
ENST00000369056.5:c.1606A>G	ENSP00000358052.1:p.Met536Val
ENST00000369058.7:c.1606A>G	ENSP00000358054.3:p.Met536Val
ENST00000369059.5:c.1261A>G	ENSP00000358055.1:p.Met421Val
ENST00000369060.8:c.1255A>G	ENSP00000358056.4:p.Met419Val
ENST00000369061.8:c.1267A>G	ENSP00000358057.4:p.Met423Val
ENST00000429361.5:c.379A>G	ENSP00000404219.1:p.Met127Val
ENST00000457416.6:c.1606A>G	ENSP00000410294.2:p.Met536Val
ENST00000478859.5:c.919A>G	ENSP00000474011.1:p.Met307Val
ENST00000604236.5:c.*650A>G	ENSP00000474109.1:n.*650A>G
ENST00000613048.4:c.1336A>G	ENSP00000484154.1:p.Met446Val
NM_000141.4:c.1603A>G	NP_000132.3:p.Met535Val
NM_001144913.1:c.1606A>G	NP_001138385.1:p.Met536Val
NM_001144914.1:c.1267A>G	NP_001138386.1:p.Met423Val
NM_001144915.1:c.1336A>G	NP_001138387.1:p.Met446Val
NM_001144916.1:c.1258A>G	NP_001138388.1:p.Met420Val
NM_001144917.1:c.1255A>G	NP_001138389.1:p.Met419Val
NM_001144918.1:c.1252A>G	NP_001138390.1:p.Met418Val
NM_001144919.1:c.1339A>G	NP_001138391.1:p.Met447Val
NM_022970.3:c.1606A>G	NP_075259.4:p.Met536Val
NM_023029.2:c.1336A>G	NP_075418.1:p.Met446Val
NR_073009.1:n.2053A>G
XM_006717708.2:c.1657A>G	XP_006717771.1:p.Met553Val
XM_006717709.2:c.1654A>G	XP_006717772.1:p.Met552Val
XM_006717710.2:c.1663A>G	XP_006717773.1:p.Met555Val
XM_006717711.2:c.1396A>G	XP_006717774.1:p.Met466Val
XM_006717712.2:c.1318A>G	XP_006717775.1:p.Met440Val
XM_006717713.2:c.1660A>G	XP_006717776.1:p.Met554Val
XM_011539510.1:c.919A>G	XP_011537812.1:p.Met307Val
NM_001320654.1:c.919A>G	NP_001307583.1:p.Met307Val
NM_001320658.1:c.1597A>G	NP_001307587.1:p.Met533Val
XM_006717708.3:c.1657A>G	XP_006717771.1:p.Met553Val
XM_006717710.4:c.1663A>G	XP_006717773.1:p.Met555Val
XM_017015920.2:c.1657A>G	XP_016871409.1:p.Met553Val
XM_017015921.2:c.1654A>G	XP_016871410.1:p.Met552Val
XM_017015924.2:c.1315A>G	XP_016871413.1:p.Met439Val
XM_017015925.2:c.1309A>G	XP_016871414.1:p.Met437Val
XM_024447887.1:c.1393A>G	XP_024303655.1:p.Met465Val
XM_024447888.1:c.1390A>G	XP_024303656.1:p.Met464Val
XM_024447889.1:c.1387A>G	XP_024303657.1:p.Met463Val
XM_024447890.1:c.1396A>G	XP_024303658.1:p.Met466Val
XM_024447891.1:c.1318A>G	XP_024303659.1:p.Met440Val
XM_024447892.1:c.433A>G	XP_024303660.1:p.Met145Val
NM_000141.5:c.1603A>G MANE Select	NP_000132.3:p.Met535Val
NM_001144917.2:c.1255A>G	NP_001138389.1:p.Met419Val
NM_001144918.2:c.1252A>G	NP_001138390.1:p.Met418Val
NM_001144919.2:c.1339A>G	NP_001138391.1:p.Met447Val
NM_001320658.2:c.1597A>G	NP_001307587.1:p.Met533Val
NR_073009.2:n.2039A>G
NM_001144915.2:c.1336A>G	NP_001138387.1:p.Met446Val
NM_001144916.2:c.1258A>G	NP_001138388.1:p.Met420Val
NM_001320654.2:c.919A>G	NP_001307583.1:p.Met307Val