Canonical Allele Identifier: CA471647412

Gene: FGFR2

Linked Data

• MyVariant Identifiers: chr10:g.123247612A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488098A>G , CM000672.2:g.121488098A>G	GRCh38
NC_000010.10:g.123247612A>G , CM000672.1:g.123247612A>G	GRCh37
NC_000010.9:g.123237602A>G	NCBI36
NG_012449.1:g.115361T>C
NG_012449.2:g.115361T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1882T>C MANE Plus Clinical	ENSP00000410294.2:p.Leu628=
ENST00000351936.11:c.1873T>C	ENSP00000309878.10:p.Leu625=
ENST00000638709.2:c.703T>C	ENSP00000491912.2:p.Leu235=
ENST00000682296.1:n.1221T>C
ENST00000682550.1:c.1528T>C	ENSP00000507633.1:p.Leu510=
ENST00000682772.1:c.703T>C	ENSP00000506848.1:p.Leu235=
ENST00000682904.1:n.699T>C
ENST00000683029.1:n.291T>C
ENST00000683211.1:c.1873T>C	ENSP00000508257.1:p.Leu625=
ENST00000683250.1:c.*581T>C	ENSP00000506847.1:n.*581T>C
ENST00000683418.1:n.4220T>C
ENST00000684153.1:c.1528T>C	ENSP00000506937.1:p.Leu510=
ENST00000684516.1:n.2892T>C
ENST00000358487.10:c.1879T>C MANE Select	ENSP00000351276.6:p.Leu627=
ENST00000336553.10:c.1606T>C	ENSP00000337665.6:p.Leu536=
ENST00000346997.6:c.1873T>C	ENSP00000263451.5:p.Leu625=
ENST00000351936.10:c.1879T>C	ENSP00000309878.9:p.Leu627=
ENST00000356226.8:c.1528T>C	ENSP00000348559.4:p.Leu510=
ENST00000357555.9:c.1612T>C	ENSP00000350166.5:p.Leu538=
ENST00000358487.9:c.1879T>C	ENSP00000351276.5:p.Leu627=
ENST00000360144.7:c.1615T>C	ENSP00000353262.3:p.Leu539=
ENST00000369056.5:c.1882T>C	ENSP00000358052.1:p.Leu628=
ENST00000369058.7:c.1882T>C	ENSP00000358054.3:p.Leu628=
ENST00000369059.5:c.1537T>C	ENSP00000358055.1:p.Leu513=
ENST00000369060.8:c.1531T>C	ENSP00000358056.4:p.Leu511=
ENST00000369061.8:c.1543T>C	ENSP00000358057.4:p.Leu515=
ENST00000429361.5:c.655T>C	ENSP00000404219.1:p.Leu219=
ENST00000457416.6:c.1882T>C	ENSP00000410294.2:p.Leu628=
ENST00000478859.5:c.1195T>C	ENSP00000474011.1:p.Leu399=
ENST00000604236.5:c.*926T>C	ENSP00000474109.1:n.*926T>C
ENST00000613048.4:c.1612T>C	ENSP00000484154.1:p.Leu538=
NM_000141.4:c.1879T>C	NP_000132.3:p.Leu627=
NM_001144913.1:c.1882T>C	NP_001138385.1:p.Leu628=
NM_001144914.1:c.1543T>C	NP_001138386.1:p.Leu515=
NM_001144915.1:c.1612T>C	NP_001138387.1:p.Leu538=
NM_001144916.1:c.1534T>C	NP_001138388.1:p.Leu512=
NM_001144917.1:c.1531T>C	NP_001138389.1:p.Leu511=
NM_001144918.1:c.1528T>C	NP_001138390.1:p.Leu510=
NM_001144919.1:c.1615T>C	NP_001138391.1:p.Leu539=
NM_022970.3:c.1882T>C	NP_075259.4:p.Leu628=
NM_023029.2:c.1612T>C	NP_075418.1:p.Leu538=
NR_073009.1:n.2329T>C
XM_006717708.2:c.1933T>C	XP_006717771.1:p.Leu645=
XM_006717709.2:c.1930T>C	XP_006717772.1:p.Leu644=
XM_006717710.2:c.1939T>C	XP_006717773.1:p.Leu647=
XM_006717711.2:c.1672T>C	XP_006717774.1:p.Leu558=
XM_006717712.2:c.1594T>C	XP_006717775.1:p.Leu532=
XM_006717713.2:c.1936T>C	XP_006717776.1:p.Leu646=
XM_011539510.1:c.1195T>C	XP_011537812.1:p.Leu399=
NM_001320654.1:c.1195T>C	NP_001307583.1:p.Leu399=
NM_001320658.1:c.1873T>C	NP_001307587.1:p.Leu625=
XM_006717708.3:c.1933T>C	XP_006717771.1:p.Leu645=
XM_006717710.4:c.1939T>C	XP_006717773.1:p.Leu647=
XM_017015920.2:c.1933T>C	XP_016871409.1:p.Leu645=
XM_017015921.2:c.1930T>C	XP_016871410.1:p.Leu644=
XM_017015924.2:c.1591T>C	XP_016871413.1:p.Leu531=
XM_017015925.2:c.1585T>C	XP_016871414.1:p.Leu529=
XM_024447887.1:c.1669T>C	XP_024303655.1:p.Leu557=
XM_024447888.1:c.1666T>C	XP_024303656.1:p.Leu556=
XM_024447889.1:c.1663T>C	XP_024303657.1:p.Leu555=
XM_024447890.1:c.1672T>C	XP_024303658.1:p.Leu558=
XM_024447891.1:c.1594T>C	XP_024303659.1:p.Leu532=
XM_024447892.1:c.709T>C	XP_024303660.1:p.Leu237=
NM_000141.5:c.1879T>C MANE Select	NP_000132.3:p.Leu627=
NM_001144917.2:c.1531T>C	NP_001138389.1:p.Leu511=
NM_001144918.2:c.1528T>C	NP_001138390.1:p.Leu510=
NM_001144919.2:c.1615T>C	NP_001138391.1:p.Leu539=
NM_001320658.2:c.1873T>C	NP_001307587.1:p.Leu625=
NR_073009.2:n.2315T>C
NM_001144915.2:c.1612T>C	NP_001138387.1:p.Leu538=
NM_001144916.2:c.1534T>C	NP_001138388.1:p.Leu512=
NM_001320654.2:c.1195T>C	NP_001307583.1:p.Leu399=