Canonical Allele Identifier: CA5720410

Gene: FGFR2

Linked Data

• ClinVar Variation Id: 298990
• ClinVar RCV Id: RCV000278665 ; RCV000336051 ; RCV000349851 ; RCV000375349 ; RCV000389329
• dbSNP Id: rs150519853
• ExAC: 10:123239047 T / C
• gnomAD v2: 10-123239047-T-C
• gnomAD v3: 10-121479533-T-C
• gnomAD v4: 10-121479533-T-C
• MyVariant Identifiers: chr10:g.123239047T>C (hg19) ; chr10:g.121479533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121479533T>C , CM000672.2:g.121479533T>C	GRCh38
NC_000010.10:g.123239047T>C , CM000672.1:g.123239047T>C	GRCh37
NC_000010.9:g.123229037T>C	NCBI36
NG_012449.1:g.123926A>G
NG_012449.2:g.123926A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.*324A>G MANE Plus Clinical	ENSP00000410294.2:n.*324A>G
ENST00000351936.11:c.*324A>G	ENSP00000309878.10:n.*324A>G
ENST00000638709.2:c.*324A>G	ENSP00000491912.2:n.*324A>G
ENST00000682296.1:n.2132A>G
ENST00000682550.1:c.*324A>G	ENSP00000507633.1:n.*324A>G
ENST00000682772.1:c.*324A>G	ENSP00000506848.1:n.*324A>G
ENST00000682904.1:n.1610A>G
ENST00000683029.1:n.2793A>G
ENST00000683211.1:c.*324A>G	ENSP00000508257.1:n.*324A>G
ENST00000683250.1:c.*3083A>G	ENSP00000506847.1:n.*3083A>G
ENST00000683418.1:n.5131A>G
ENST00000684153.1:c.*518A>G	ENSP00000506937.1:n.*518A>G
ENST00000684516.1:n.3803A>G
ENST00000358487.10:c.*324A>G MANE Select	ENSP00000351276.6:n.*324A>G
ENST00000638709.1:c.777A>G
ENST00000356226.8:c.*324A>G	ENSP00000348559.4:n.*324A>G
ENST00000357555.9:c.*48A>G	ENSP00000350166.5:n.*48A>G
ENST00000358487.9:c.*324A>G	ENSP00000351276.5:n.*324A>G
ENST00000369060.8:c.*324A>G	ENSP00000358056.4:n.*324A>G
ENST00000369061.8:c.*324A>G	ENSP00000358057.4:n.*324A>G
ENST00000478859.5:c.*324A>G	ENSP00000474011.1:n.*324A>G
ENST00000604236.5:c.*1837A>G	ENSP00000474109.1:n.*1837A>G
ENST00000613048.4:c.*324A>G	ENSP00000484154.1:n.*324A>G
NM_000141.4:c.*324A>G	NP_000132.3:n.*324A>G
NM_001144914.1:c.*324A>G	NP_001138386.1:n.*324A>G
NM_001144915.1:c.*48A>G	NP_001138387.1:n.*48A>G
NM_001144916.1:c.*324A>G	NP_001138388.1:n.*324A>G
NM_001144917.1:c.*324A>G	NP_001138389.1:n.*324A>G
NM_001144918.1:c.*324A>G	NP_001138390.1:n.*324A>G
NM_022970.3:c.*324A>G	NP_075259.4:n.*324A>G
NM_023029.2:c.*324A>G	NP_075418.1:n.*324A>G
NR_073009.1:n.3240A>G
XM_006717708.2:c.*324A>G	XP_006717771.1:n.*324A>G
XM_006717709.2:c.*324A>G	XP_006717772.1:n.*324A>G
XM_006717711.2:c.*324A>G	XP_006717774.1:n.*324A>G
XM_006717712.2:c.*324A>G	XP_006717775.1:n.*324A>G
XM_011539510.1:c.*324A>G	XP_011537812.1:n.*324A>G
NM_001320654.1:c.*324A>G	NP_001307583.1:n.*324A>G
NM_001320658.1:c.*324A>G	NP_001307587.1:n.*324A>G
XM_006717708.3:c.*324A>G	XP_006717771.1:n.*324A>G
XM_006717710.4:c.*518A>G	XP_006717773.1:n.*518A>G
XM_017015920.2:c.*518A>G	XP_016871409.1:n.*518A>G
XM_017015921.2:c.*518A>G	XP_016871410.1:n.*518A>G
XM_017015924.2:c.*324A>G	XP_016871413.1:n.*324A>G
XM_017015925.2:c.*518A>G	XP_016871414.1:n.*518A>G
XM_024447887.1:c.*324A>G	XP_024303655.1:n.*324A>G
XM_024447888.1:c.*324A>G	XP_024303656.1:n.*324A>G
XM_024447889.1:c.*324A>G	XP_024303657.1:n.*324A>G
XM_024447890.1:c.*324A>G	XP_024303658.1:n.*324A>G
XM_024447891.1:c.*324A>G	XP_024303659.1:n.*324A>G
XM_024447892.1:c.*324A>G	XP_024303660.1:n.*324A>G
NM_000141.5:c.*324A>G MANE Select	NP_000132.3:n.*324A>G
NM_001144917.2:c.*324A>G	NP_001138389.1:n.*324A>G
NM_001144918.2:c.*324A>G	NP_001138390.1:n.*324A>G
NM_001320658.2:c.*324A>G	NP_001307587.1:n.*324A>G
NR_073009.2:n.3226A>G
NM_001144915.2:c.*48A>G	NP_001138387.1:n.*48A>G
NM_001144916.2:c.*324A>G	NP_001138388.1:n.*324A>G
NM_001320654.2:c.*324A>G	NP_001307583.1:n.*324A>G