Canonical Allele Identifier: CA5720614

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 1566114
• ClinVar RCV Id: RCV002207255
• dbSNP Id: rs369637667
• ExAC: 10:123247625 A / G
• gnomAD v2: 10-123247625-A-G
• gnomAD v3: 10-121488111-A-G
• gnomAD v4: 10-121488111-A-G
• MyVariant Identifiers: chr10:g.123247625A>G (hg19) ; chr10:g.121488111A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488111A>G , CM000672.2:g.121488111A>G	GRCh38
NC_000010.10:g.123247625A>G , CM000672.1:g.123247625A>G	GRCh37
NC_000010.9:g.123237615A>G	NCBI36
NG_012449.1:g.115348T>C
NG_012449.2:g.115348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1869T>C MANE Plus Clinical	ENSP00000410294.2:p.Cys623=
ENST00000351936.11:c.1860T>C	ENSP00000309878.10:p.Cys620=
ENST00000638709.2:c.690T>C	ENSP00000491912.2:p.Cys230=
ENST00000682296.1:n.1208T>C
ENST00000682550.1:c.1515T>C	ENSP00000507633.1:p.Cys505=
ENST00000682772.1:c.690T>C	ENSP00000506848.1:p.Cys230=
ENST00000682904.1:n.686T>C
ENST00000683029.1:n.278T>C
ENST00000683211.1:c.1860T>C	ENSP00000508257.1:p.Cys620=
ENST00000683250.1:c.*568T>C	ENSP00000506847.1:n.*568T>C
ENST00000683418.1:n.4207T>C
ENST00000684153.1:c.1515T>C	ENSP00000506937.1:p.Cys505=
ENST00000684516.1:n.2879T>C
ENST00000358487.10:c.1866T>C MANE Select	ENSP00000351276.6:p.Cys622=
ENST00000336553.10:c.1593T>C	ENSP00000337665.6:p.Cys531=
ENST00000346997.6:c.1860T>C	ENSP00000263451.5:p.Cys620=
ENST00000351936.10:c.1866T>C	ENSP00000309878.9:p.Cys622=
ENST00000356226.8:c.1515T>C	ENSP00000348559.4:p.Cys505=
ENST00000357555.9:c.1599T>C	ENSP00000350166.5:p.Cys533=
ENST00000358487.9:c.1866T>C	ENSP00000351276.5:p.Cys622=
ENST00000360144.7:c.1602T>C	ENSP00000353262.3:p.Cys534=
ENST00000369056.5:c.1869T>C	ENSP00000358052.1:p.Cys623=
ENST00000369058.7:c.1869T>C	ENSP00000358054.3:p.Cys623=
ENST00000369059.5:c.1524T>C	ENSP00000358055.1:p.Cys508=
ENST00000369060.8:c.1518T>C	ENSP00000358056.4:p.Cys506=
ENST00000369061.8:c.1530T>C	ENSP00000358057.4:p.Cys510=
ENST00000429361.5:c.642T>C	ENSP00000404219.1:p.Cys214=
ENST00000457416.6:c.1869T>C	ENSP00000410294.2:p.Cys623=
ENST00000478859.5:c.1182T>C	ENSP00000474011.1:p.Cys394=
ENST00000604236.5:c.*913T>C	ENSP00000474109.1:n.*913T>C
ENST00000613048.4:c.1599T>C	ENSP00000484154.1:p.Cys533=
NM_000141.4:c.1866T>C	NP_000132.3:p.Cys622=
NM_001144913.1:c.1869T>C	NP_001138385.1:p.Cys623=
NM_001144914.1:c.1530T>C	NP_001138386.1:p.Cys510=
NM_001144915.1:c.1599T>C	NP_001138387.1:p.Cys533=
NM_001144916.1:c.1521T>C	NP_001138388.1:p.Cys507=
NM_001144917.1:c.1518T>C	NP_001138389.1:p.Cys506=
NM_001144918.1:c.1515T>C	NP_001138390.1:p.Cys505=
NM_001144919.1:c.1602T>C	NP_001138391.1:p.Cys534=
NM_022970.3:c.1869T>C	NP_075259.4:p.Cys623=
NM_023029.2:c.1599T>C	NP_075418.1:p.Cys533=
NR_073009.1:n.2316T>C
XM_006717708.2:c.1920T>C	XP_006717771.1:p.Cys640=
XM_006717709.2:c.1917T>C	XP_006717772.1:p.Cys639=
XM_006717710.2:c.1926T>C	XP_006717773.1:p.Cys642=
XM_006717711.2:c.1659T>C	XP_006717774.1:p.Cys553=
XM_006717712.2:c.1581T>C	XP_006717775.1:p.Cys527=
XM_006717713.2:c.1923T>C	XP_006717776.1:p.Cys641=
XM_011539510.1:c.1182T>C	XP_011537812.1:p.Cys394=
NM_001320654.1:c.1182T>C	NP_001307583.1:p.Cys394=
NM_001320658.1:c.1860T>C	NP_001307587.1:p.Cys620=
XM_006717708.3:c.1920T>C	XP_006717771.1:p.Cys640=
XM_006717710.4:c.1926T>C	XP_006717773.1:p.Cys642=
XM_017015920.2:c.1920T>C	XP_016871409.1:p.Cys640=
XM_017015921.2:c.1917T>C	XP_016871410.1:p.Cys639=
XM_017015924.2:c.1578T>C	XP_016871413.1:p.Cys526=
XM_017015925.2:c.1572T>C	XP_016871414.1:p.Cys524=
XM_024447887.1:c.1656T>C	XP_024303655.1:p.Cys552=
XM_024447888.1:c.1653T>C	XP_024303656.1:p.Cys551=
XM_024447889.1:c.1650T>C	XP_024303657.1:p.Cys550=
XM_024447890.1:c.1659T>C	XP_024303658.1:p.Cys553=
XM_024447891.1:c.1581T>C	XP_024303659.1:p.Cys527=
XM_024447892.1:c.696T>C	XP_024303660.1:p.Cys232=
NM_000141.5:c.1866T>C MANE Select	NP_000132.3:p.Cys622=
NM_001144917.2:c.1518T>C	NP_001138389.1:p.Cys506=
NM_001144918.2:c.1515T>C	NP_001138390.1:p.Cys505=
NM_001144919.2:c.1602T>C	NP_001138391.1:p.Cys534=
NM_001320658.2:c.1860T>C	NP_001307587.1:p.Cys620=
NR_073009.2:n.2302T>C
NM_001144915.2:c.1599T>C	NP_001138387.1:p.Cys533=
NM_001144916.2:c.1521T>C	NP_001138388.1:p.Cys507=
NM_001320654.2:c.1182T>C	NP_001307583.1:p.Cys394=