Canonical Allele Identifier: CA5720605

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 1285493
• ClinVar RCV Id: RCV001706850
• dbSNP Id: rs747718232
• ExAC: 10:123247531 T / C
• gnomAD v2: 10-123247531-T-C
• gnomAD v4: 10-121488017-T-C
• MyVariant Identifiers: chr10:g.123247531T>C (hg19) ; chr10:g.121488017T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488017T>C , CM000672.2:g.121488017T>C	GRCh38
NC_000010.10:g.123247531T>C , CM000672.1:g.123247531T>C	GRCh37
NC_000010.9:g.123237521T>C	NCBI36
NG_012449.1:g.115442A>G
NG_012449.2:g.115442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1963A>G MANE Plus Clinical	ENSP00000410294.2:p.Ile655Val
ENST00000351936.11:c.1954A>G	ENSP00000309878.10:p.Ile652Val
ENST00000638709.2:c.784A>G	ENSP00000491912.2:p.Ile262Val
ENST00000682296.1:n.1302A>G
ENST00000682550.1:c.1609A>G	ENSP00000507633.1:p.Ile537Val
ENST00000682772.1:c.784A>G	ENSP00000506848.1:p.Ile262Val
ENST00000682904.1:n.780A>G
ENST00000683029.1:n.372A>G
ENST00000683211.1:c.1954A>G	ENSP00000508257.1:p.Ile652Val
ENST00000683250.1:c.*662A>G	ENSP00000506847.1:n.*662A>G
ENST00000683418.1:n.4301A>G
ENST00000684153.1:c.1609A>G	ENSP00000506937.1:p.Ile537Val
ENST00000684516.1:n.2973A>G
ENST00000358487.10:c.1960A>G MANE Select	ENSP00000351276.6:p.Ile654Val
ENST00000336553.10:c.1687A>G	ENSP00000337665.6:p.Ile563Val
ENST00000346997.6:c.1954A>G	ENSP00000263451.5:p.Ile652Val
ENST00000351936.10:c.1960A>G	ENSP00000309878.9:p.Ile654Val
ENST00000356226.8:c.1609A>G	ENSP00000348559.4:p.Ile537Val
ENST00000357555.9:c.1693A>G	ENSP00000350166.5:p.Ile565Val
ENST00000358487.9:c.1960A>G	ENSP00000351276.5:p.Ile654Val
ENST00000360144.7:c.1696A>G	ENSP00000353262.3:p.Ile566Val
ENST00000369056.5:c.1963A>G	ENSP00000358052.1:p.Ile655Val
ENST00000369058.7:c.1963A>G	ENSP00000358054.3:p.Ile655Val
ENST00000369059.5:c.1618A>G	ENSP00000358055.1:p.Ile540Val
ENST00000369060.8:c.1612A>G	ENSP00000358056.4:p.Ile538Val
ENST00000369061.8:c.1624A>G	ENSP00000358057.4:p.Ile542Val
ENST00000429361.5:c.736A>G	ENSP00000404219.1:p.Ile246Val
ENST00000457416.6:c.1963A>G	ENSP00000410294.2:p.Ile655Val
ENST00000478859.5:c.1276A>G	ENSP00000474011.1:p.Ile426Val
ENST00000604236.5:c.*1007A>G	ENSP00000474109.1:n.*1007A>G
ENST00000613048.4:c.1693A>G	ENSP00000484154.1:p.Ile565Val
NM_000141.4:c.1960A>G	NP_000132.3:p.Ile654Val
NM_001144913.1:c.1963A>G	NP_001138385.1:p.Ile655Val
NM_001144914.1:c.1624A>G	NP_001138386.1:p.Ile542Val
NM_001144915.1:c.1693A>G	NP_001138387.1:p.Ile565Val
NM_001144916.1:c.1615A>G	NP_001138388.1:p.Ile539Val
NM_001144917.1:c.1612A>G	NP_001138389.1:p.Ile538Val
NM_001144918.1:c.1609A>G	NP_001138390.1:p.Ile537Val
NM_001144919.1:c.1696A>G	NP_001138391.1:p.Ile566Val
NM_022970.3:c.1963A>G	NP_075259.4:p.Ile655Val
NM_023029.2:c.1693A>G	NP_075418.1:p.Ile565Val
NR_073009.1:n.2410A>G
XM_006717708.2:c.2014A>G	XP_006717771.1:p.Ile672Val
XM_006717709.2:c.2011A>G	XP_006717772.1:p.Ile671Val
XM_006717710.2:c.2020A>G	XP_006717773.1:p.Ile674Val
XM_006717711.2:c.1753A>G	XP_006717774.1:p.Ile585Val
XM_006717712.2:c.1675A>G	XP_006717775.1:p.Ile559Val
XM_006717713.2:c.2017A>G	XP_006717776.1:p.Ile673Val
XM_011539510.1:c.1276A>G	XP_011537812.1:p.Ile426Val
NM_001320654.1:c.1276A>G	NP_001307583.1:p.Ile426Val
NM_001320658.1:c.1954A>G	NP_001307587.1:p.Ile652Val
XM_006717708.3:c.2014A>G	XP_006717771.1:p.Ile672Val
XM_006717710.4:c.2020A>G	XP_006717773.1:p.Ile674Val
XM_017015920.2:c.2014A>G	XP_016871409.1:p.Ile672Val
XM_017015921.2:c.2011A>G	XP_016871410.1:p.Ile671Val
XM_017015924.2:c.1672A>G	XP_016871413.1:p.Ile558Val
XM_017015925.2:c.1666A>G	XP_016871414.1:p.Ile556Val
XM_024447887.1:c.1750A>G	XP_024303655.1:p.Ile584Val
XM_024447888.1:c.1747A>G	XP_024303656.1:p.Ile583Val
XM_024447889.1:c.1744A>G	XP_024303657.1:p.Ile582Val
XM_024447890.1:c.1753A>G	XP_024303658.1:p.Ile585Val
XM_024447891.1:c.1675A>G	XP_024303659.1:p.Ile559Val
XM_024447892.1:c.790A>G	XP_024303660.1:p.Ile264Val
NM_000141.5:c.1960A>G MANE Select	NP_000132.3:p.Ile654Val
NM_001144917.2:c.1612A>G	NP_001138389.1:p.Ile538Val
NM_001144918.2:c.1609A>G	NP_001138390.1:p.Ile537Val
NM_001144919.2:c.1696A>G	NP_001138391.1:p.Ile566Val
NM_001320658.2:c.1954A>G	NP_001307587.1:p.Ile652Val
NR_073009.2:n.2396A>G
NM_001144915.2:c.1693A>G	NP_001138387.1:p.Ile565Val
NM_001144916.2:c.1615A>G	NP_001138388.1:p.Ile539Val
NM_001320654.2:c.1276A>G	NP_001307583.1:p.Ile426Val