Canonical Allele Identifier: CA214952477

Gene: FGFR2

Linked Data

• dbSNP Id: rs576432930
• gnomAD v2: 10-123238871-AAGAG-A
• gnomAD v3: 10-121479357-AAGAG-A
• gnomAD v4: 10-121479357-AAGAG-A
• MyVariant Identifiers: chr10:g.123238872_123238875del (hg19) ; chr10:g.121479358_121479361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121479361_121479364del , CM000672.2:g.121479361_121479364del	GRCh38
NC_000010.10:g.123238875_123238878del , CM000672.1:g.123238875_123238878del	GRCh37
NC_000010.9:g.123228865_123228868del	NCBI36
NG_012449.1:g.124098_124101del
NG_012449.2:g.124098_124101del

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.*496_*499del MANE Plus Clinical	ENSP00000410294.2:n.*496_*499del
ENST00000351936.11:c.*496_*499del	ENSP00000309878.10:n.*496_*499del
ENST00000638709.2:c.*496_*499del	ENSP00000491912.2:n.*496_*499del
ENST00000682296.1:n.2304_2307del
ENST00000682550.1:c.*496_*499del	ENSP00000507633.1:n.*496_*499del
ENST00000682772.1:c.*496_*499del	ENSP00000506848.1:n.*496_*499del
ENST00000682904.1:n.1782_1785del
ENST00000683029.1:n.2965_2968del
ENST00000683211.1:c.*496_*499del	ENSP00000508257.1:n.*496_*499del
ENST00000683250.1:c.*3255_*3258del	ENSP00000506847.1:n.*3255_*3258del
ENST00000683418.1:n.5303_5306del
ENST00000684153.1:c.*690_*693del	ENSP00000506937.1:n.*690_*693del
ENST00000684516.1:n.3975_3978del
ENST00000358487.10:c.*496_*499del MANE Select	ENSP00000351276.6:n.*496_*499del
ENST00000638709.1:c.949_952del
ENST00000356226.8:c.*496_*499del	ENSP00000348559.4:n.*496_*499del
ENST00000357555.9:c.*220_*223del	ENSP00000350166.5:n.*220_*223del
ENST00000358487.9:c.*496_*499del	ENSP00000351276.5:n.*496_*499del
ENST00000369060.8:c.*496_*499del	ENSP00000358056.4:n.*496_*499del
ENST00000369061.8:c.*496_*499del	ENSP00000358057.4:n.*496_*499del
ENST00000478859.5:c.*496_*499del	ENSP00000474011.1:n.*496_*499del
ENST00000604236.5:c.*2009_*2012del	ENSP00000474109.1:n.*2009_*2012del
ENST00000613048.4:c.*496_*499del	ENSP00000484154.1:n.*496_*499del
NM_000141.4:c.*496_*499del	NP_000132.3:n.*496_*499del
NM_001144914.1:c.*496_*499del	NP_001138386.1:n.*496_*499del
NM_001144915.1:c.*220_*223del	NP_001138387.1:n.*220_*223del
NM_001144916.1:c.*496_*499del	NP_001138388.1:n.*496_*499del
NM_001144917.1:c.*496_*499del	NP_001138389.1:n.*496_*499del
NM_001144918.1:c.*496_*499del	NP_001138390.1:n.*496_*499del
NM_022970.3:c.*496_*499del	NP_075259.4:n.*496_*499del
NM_023029.2:c.*496_*499del	NP_075418.1:n.*496_*499del
NR_073009.1:n.3412_3415del
XM_006717708.2:c.*496_*499del	XP_006717771.1:n.*496_*499del
XM_006717709.2:c.*496_*499del	XP_006717772.1:n.*496_*499del
XM_006717711.2:c.*496_*499del	XP_006717774.1:n.*496_*499del
XM_006717712.2:c.*496_*499del	XP_006717775.1:n.*496_*499del
XM_011539510.1:c.*496_*499del	XP_011537812.1:n.*496_*499del
NM_001320654.1:c.*496_*499del	NP_001307583.1:n.*496_*499del
NM_001320658.1:c.*496_*499del	NP_001307587.1:n.*496_*499del
XM_006717708.3:c.*496_*499del	XP_006717771.1:n.*496_*499del
XM_006717710.4:c.*690_*693del	XP_006717773.1:n.*690_*693del
XM_017015920.2:c.*690_*693del	XP_016871409.1:n.*690_*693del
XM_017015921.2:c.*690_*693del	XP_016871410.1:n.*690_*693del
XM_017015924.2:c.*496_*499del	XP_016871413.1:n.*496_*499del
XM_017015925.2:c.*690_*693del	XP_016871414.1:n.*690_*693del
XM_024447887.1:c.*496_*499del	XP_024303655.1:n.*496_*499del
XM_024447888.1:c.*496_*499del	XP_024303656.1:n.*496_*499del
XM_024447889.1:c.*496_*499del	XP_024303657.1:n.*496_*499del
XM_024447890.1:c.*496_*499del	XP_024303658.1:n.*496_*499del
XM_024447891.1:c.*496_*499del	XP_024303659.1:n.*496_*499del
XM_024447892.1:c.*496_*499del	XP_024303660.1:n.*496_*499del
NM_000141.5:c.*496_*499del MANE Select	NP_000132.3:n.*496_*499del
NM_001144917.2:c.*496_*499del	NP_001138389.1:n.*496_*499del
NM_001144918.2:c.*496_*499del	NP_001138390.1:n.*496_*499del
NM_001320658.2:c.*496_*499del	NP_001307587.1:n.*496_*499del
NR_073009.2:n.3398_3401del
NM_001144915.2:c.*220_*223del	NP_001138387.1:n.*220_*223del
NM_001144916.2:c.*496_*499del	NP_001138388.1:n.*496_*499del
NM_001320654.2:c.*496_*499del	NP_001307583.1:n.*496_*499del