Canonical Allele Identifier: CA5720693

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 284342
• ClinVar RCV Id: RCV000351105 ; RCV000872597 ; RCV001106375 ; RCV001106376 ; RCV001106373 ; RCV001106374 ; RCV001108580 ; RCV001545315
• dbSNP Id: rs74160613
• ExAC: 10:123258109 T / C
• gnomAD v2: 10-123258109-T-C
• gnomAD v3: 10-121498595-T-C
• gnomAD v4: 10-121498595-T-C
• MyVariant Identifiers: chr10:g.123258109T>C (hg19) ; chr10:g.121498595T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498595T>C , CM000672.2:g.121498595T>C	GRCh38
NC_000010.10:g.123258109T>C , CM000672.1:g.123258109T>C	GRCh37
NC_000010.9:g.123248099T>C	NCBI36
NG_012449.1:g.104864A>G
NG_012449.2:g.104864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1575A>G MANE Plus Clinical	ENSP00000410294.2:p.Thr525=
ENST00000351936.11:c.1566A>G	ENSP00000309878.10:p.Thr522=
ENST00000638709.2:c.396A>G	ENSP00000491912.2:p.Thr132=
ENST00000682296.1:n.914A>G
ENST00000682550.1:c.1221A>G	ENSP00000507633.1:p.Thr407=
ENST00000682772.1:c.396A>G	ENSP00000506848.1:p.Thr132=
ENST00000682904.1:n.392A>G
ENST00000683211.1:c.1566A>G	ENSP00000508257.1:p.Thr522=
ENST00000683250.1:c.*274A>G	ENSP00000506847.1:n.*274A>G
ENST00000683418.1:n.3913A>G
ENST00000684153.1:c.1221A>G	ENSP00000506937.1:p.Thr407=
ENST00000684516.1:n.2585A>G
ENST00000358487.10:c.1572A>G MANE Select	ENSP00000351276.6:p.Thr524=
ENST00000336553.10:c.1299A>G	ENSP00000337665.6:p.Thr433=
ENST00000346997.6:c.1566A>G	ENSP00000263451.5:p.Thr522=
ENST00000351936.10:c.1572A>G	ENSP00000309878.9:p.Thr524=
ENST00000356226.8:c.1221A>G	ENSP00000348559.4:p.Thr407=
ENST00000357555.9:c.1305A>G	ENSP00000350166.5:p.Thr435=
ENST00000358487.9:c.1572A>G	ENSP00000351276.5:p.Thr524=
ENST00000360144.7:c.1308A>G	ENSP00000353262.3:p.Thr436=
ENST00000369056.5:c.1575A>G	ENSP00000358052.1:p.Thr525=
ENST00000369058.7:c.1575A>G	ENSP00000358054.3:p.Thr525=
ENST00000369059.5:c.1230A>G	ENSP00000358055.1:p.Thr410=
ENST00000369060.8:c.1224A>G	ENSP00000358056.4:p.Thr408=
ENST00000369061.8:c.1236A>G	ENSP00000358057.4:p.Thr412=
ENST00000429361.5:c.348A>G	ENSP00000404219.1:p.Thr116=
ENST00000457416.6:c.1575A>G	ENSP00000410294.2:p.Thr525=
ENST00000478859.5:c.888A>G	ENSP00000474011.1:p.Thr296=
ENST00000604236.5:c.*619A>G	ENSP00000474109.1:n.*619A>G
ENST00000613048.4:c.1305A>G	ENSP00000484154.1:p.Thr435=
NM_000141.4:c.1572A>G	NP_000132.3:p.Thr524=
NM_001144913.1:c.1575A>G	NP_001138385.1:p.Thr525=
NM_001144914.1:c.1236A>G	NP_001138386.1:p.Thr412=
NM_001144915.1:c.1305A>G	NP_001138387.1:p.Thr435=
NM_001144916.1:c.1227A>G	NP_001138388.1:p.Thr409=
NM_001144917.1:c.1224A>G	NP_001138389.1:p.Thr408=
NM_001144918.1:c.1221A>G	NP_001138390.1:p.Thr407=
NM_001144919.1:c.1308A>G	NP_001138391.1:p.Thr436=
NM_022970.3:c.1575A>G	NP_075259.4:p.Thr525=
NM_023029.2:c.1305A>G	NP_075418.1:p.Thr435=
NR_073009.1:n.2022A>G
XM_006717708.2:c.1626A>G	XP_006717771.1:p.Thr542=
XM_006717709.2:c.1623A>G	XP_006717772.1:p.Thr541=
XM_006717710.2:c.1632A>G	XP_006717773.1:p.Thr544=
XM_006717711.2:c.1365A>G	XP_006717774.1:p.Thr455=
XM_006717712.2:c.1287A>G	XP_006717775.1:p.Thr429=
XM_006717713.2:c.1629A>G	XP_006717776.1:p.Thr543=
XM_011539510.1:c.888A>G	XP_011537812.1:p.Thr296=
NM_001320654.1:c.888A>G	NP_001307583.1:p.Thr296=
NM_001320658.1:c.1566A>G	NP_001307587.1:p.Thr522=
XM_006717708.3:c.1626A>G	XP_006717771.1:p.Thr542=
XM_006717710.4:c.1632A>G	XP_006717773.1:p.Thr544=
XM_017015920.2:c.1626A>G	XP_016871409.1:p.Thr542=
XM_017015921.2:c.1623A>G	XP_016871410.1:p.Thr541=
XM_017015924.2:c.1284A>G	XP_016871413.1:p.Thr428=
XM_017015925.2:c.1278A>G	XP_016871414.1:p.Thr426=
XM_024447887.1:c.1362A>G	XP_024303655.1:p.Thr454=
XM_024447888.1:c.1359A>G	XP_024303656.1:p.Thr453=
XM_024447889.1:c.1356A>G	XP_024303657.1:p.Thr452=
XM_024447890.1:c.1365A>G	XP_024303658.1:p.Thr455=
XM_024447891.1:c.1287A>G	XP_024303659.1:p.Thr429=
XM_024447892.1:c.402A>G	XP_024303660.1:p.Thr134=
NM_000141.5:c.1572A>G MANE Select	NP_000132.3:p.Thr524=
NM_001144917.2:c.1224A>G	NP_001138389.1:p.Thr408=
NM_001144918.2:c.1221A>G	NP_001138390.1:p.Thr407=
NM_001144919.2:c.1308A>G	NP_001138391.1:p.Thr436=
NM_001320658.2:c.1566A>G	NP_001307587.1:p.Thr522=
NR_073009.2:n.2008A>G
NM_001144915.2:c.1305A>G	NP_001138387.1:p.Thr435=
NM_001144916.2:c.1227A>G	NP_001138388.1:p.Thr409=
NM_001320654.2:c.888A>G	NP_001307583.1:p.Thr296=