Canonical Allele Identifier: CA378314172

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123247518T>A (hg19) ; chr10:g.121488004T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488004T>A , CM000672.2:g.121488004T>A	GRCh38
NC_000010.10:g.123247518T>A , CM000672.1:g.123247518T>A	GRCh37
NC_000010.9:g.123237508T>A	NCBI36
NG_012449.1:g.115455A>T
NG_012449.2:g.115455A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1976A>T MANE Plus Clinical	ENSP00000410294.2:p.Lys659Ile
ENST00000351936.11:c.1967A>T	ENSP00000309878.10:p.Lys656Ile
ENST00000638709.2:c.797A>T	ENSP00000491912.2:p.Lys266Ile
ENST00000682296.1:n.1315A>T
ENST00000682550.1:c.1622A>T	ENSP00000507633.1:p.Lys541Ile
ENST00000682772.1:c.797A>T	ENSP00000506848.1:p.Lys266Ile
ENST00000682904.1:n.793A>T
ENST00000683029.1:n.385A>T
ENST00000683211.1:c.1967A>T	ENSP00000508257.1:p.Lys656Ile
ENST00000683250.1:c.*675A>T	ENSP00000506847.1:n.*675A>T
ENST00000683418.1:n.4314A>T
ENST00000684153.1:c.1622A>T	ENSP00000506937.1:p.Lys541Ile
ENST00000684516.1:n.2986A>T
ENST00000358487.10:c.1973A>T MANE Select	ENSP00000351276.6:p.Lys658Ile
ENST00000336553.10:c.1700A>T	ENSP00000337665.6:p.Lys567Ile
ENST00000346997.6:c.1967A>T	ENSP00000263451.5:p.Lys656Ile
ENST00000351936.10:c.1973A>T	ENSP00000309878.9:p.Lys658Ile
ENST00000356226.8:c.1622A>T	ENSP00000348559.4:p.Lys541Ile
ENST00000357555.9:c.1706A>T	ENSP00000350166.5:p.Lys569Ile
ENST00000358487.9:c.1973A>T	ENSP00000351276.5:p.Lys658Ile
ENST00000360144.7:c.1709A>T	ENSP00000353262.3:p.Lys570Ile
ENST00000369056.5:c.1976A>T	ENSP00000358052.1:p.Lys659Ile
ENST00000369058.7:c.1976A>T	ENSP00000358054.3:p.Lys659Ile
ENST00000369059.5:c.1631A>T	ENSP00000358055.1:p.Lys544Ile
ENST00000369060.8:c.1625A>T	ENSP00000358056.4:p.Lys542Ile
ENST00000369061.8:c.1637A>T	ENSP00000358057.4:p.Lys546Ile
ENST00000429361.5:c.749A>T	ENSP00000404219.1:p.Lys250Ile
ENST00000457416.6:c.1976A>T	ENSP00000410294.2:p.Lys659Ile
ENST00000478859.5:c.1289A>T	ENSP00000474011.1:p.Lys430Ile
ENST00000604236.5:c.*1020A>T	ENSP00000474109.1:n.*1020A>T
ENST00000613048.4:c.1706A>T	ENSP00000484154.1:p.Lys569Ile
NM_000141.4:c.1973A>T	NP_000132.3:p.Lys658Ile
NM_001144913.1:c.1976A>T	NP_001138385.1:p.Lys659Ile
NM_001144914.1:c.1637A>T	NP_001138386.1:p.Lys546Ile
NM_001144915.1:c.1706A>T	NP_001138387.1:p.Lys569Ile
NM_001144916.1:c.1628A>T	NP_001138388.1:p.Lys543Ile
NM_001144917.1:c.1625A>T	NP_001138389.1:p.Lys542Ile
NM_001144918.1:c.1622A>T	NP_001138390.1:p.Lys541Ile
NM_001144919.1:c.1709A>T	NP_001138391.1:p.Lys570Ile
NM_022970.3:c.1976A>T	NP_075259.4:p.Lys659Ile
NM_023029.2:c.1706A>T	NP_075418.1:p.Lys569Ile
NR_073009.1:n.2423A>T
XM_006717708.2:c.2027A>T	XP_006717771.1:p.Lys676Ile
XM_006717709.2:c.2024A>T	XP_006717772.1:p.Lys675Ile
XM_006717710.2:c.2033A>T	XP_006717773.1:p.Lys678Ile
XM_006717711.2:c.1766A>T	XP_006717774.1:p.Lys589Ile
XM_006717712.2:c.1688A>T	XP_006717775.1:p.Lys563Ile
XM_006717713.2:c.2030A>T	XP_006717776.1:p.Lys677Ile
XM_011539510.1:c.1289A>T	XP_011537812.1:p.Lys430Ile
NM_001320654.1:c.1289A>T	NP_001307583.1:p.Lys430Ile
NM_001320658.1:c.1967A>T	NP_001307587.1:p.Lys656Ile
XM_006717708.3:c.2027A>T	XP_006717771.1:p.Lys676Ile
XM_006717710.4:c.2033A>T	XP_006717773.1:p.Lys678Ile
XM_017015920.2:c.2027A>T	XP_016871409.1:p.Lys676Ile
XM_017015921.2:c.2024A>T	XP_016871410.1:p.Lys675Ile
XM_017015924.2:c.1685A>T	XP_016871413.1:p.Lys562Ile
XM_017015925.2:c.1679A>T	XP_016871414.1:p.Lys560Ile
XM_024447887.1:c.1763A>T	XP_024303655.1:p.Lys588Ile
XM_024447888.1:c.1760A>T	XP_024303656.1:p.Lys587Ile
XM_024447889.1:c.1757A>T	XP_024303657.1:p.Lys586Ile
XM_024447890.1:c.1766A>T	XP_024303658.1:p.Lys589Ile
XM_024447891.1:c.1688A>T	XP_024303659.1:p.Lys563Ile
XM_024447892.1:c.803A>T	XP_024303660.1:p.Lys268Ile
NM_000141.5:c.1973A>T MANE Select	NP_000132.3:p.Lys658Ile
NM_001144917.2:c.1625A>T	NP_001138389.1:p.Lys542Ile
NM_001144918.2:c.1622A>T	NP_001138390.1:p.Lys541Ile
NM_001144919.2:c.1709A>T	NP_001138391.1:p.Lys570Ile
NM_001320658.2:c.1967A>T	NP_001307587.1:p.Lys656Ile
NR_073009.2:n.2409A>T
NM_001144915.2:c.1706A>T	NP_001138387.1:p.Lys569Ile
NM_001144916.2:c.1628A>T	NP_001138388.1:p.Lys543Ile
NM_001320654.2:c.1289A>T	NP_001307583.1:p.Lys430Ile