Canonical Allele Identifier: CA378314168

Gene: FGFR2

Linked Data

• gnomAD v4: 10-121488003-T-G
• MyVariant Identifiers: chr10:g.123247517T>G (hg19) ; chr10:g.121488003T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121488003T>G , CM000672.2:g.121488003T>G	GRCh38
NC_000010.10:g.123247517T>G , CM000672.1:g.123247517T>G	GRCh37
NC_000010.9:g.123237507T>G	NCBI36
NG_012449.1:g.115456A>C
NG_012449.2:g.115456A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1977A>C MANE Plus Clinical	ENSP00000410294.2:p.Lys659Asn
ENST00000351936.11:c.1968A>C	ENSP00000309878.10:p.Lys656Asn
ENST00000638709.2:c.798A>C	ENSP00000491912.2:p.Lys266Asn
ENST00000682296.1:n.1316A>C
ENST00000682550.1:c.1623A>C	ENSP00000507633.1:p.Lys541Asn
ENST00000682772.1:c.798A>C	ENSP00000506848.1:p.Lys266Asn
ENST00000682904.1:n.794A>C
ENST00000683029.1:n.386A>C
ENST00000683211.1:c.1968A>C	ENSP00000508257.1:p.Lys656Asn
ENST00000683250.1:c.*676A>C	ENSP00000506847.1:n.*676A>C
ENST00000683418.1:n.4315A>C
ENST00000684153.1:c.1623A>C	ENSP00000506937.1:p.Lys541Asn
ENST00000684516.1:n.2987A>C
ENST00000358487.10:c.1974A>C MANE Select	ENSP00000351276.6:p.Lys658Asn
ENST00000336553.10:c.1701A>C	ENSP00000337665.6:p.Lys567Asn
ENST00000346997.6:c.1968A>C	ENSP00000263451.5:p.Lys656Asn
ENST00000351936.10:c.1974A>C	ENSP00000309878.9:p.Lys658Asn
ENST00000356226.8:c.1623A>C	ENSP00000348559.4:p.Lys541Asn
ENST00000357555.9:c.1707A>C	ENSP00000350166.5:p.Lys569Asn
ENST00000358487.9:c.1974A>C	ENSP00000351276.5:p.Lys658Asn
ENST00000360144.7:c.1710A>C	ENSP00000353262.3:p.Lys570Asn
ENST00000369056.5:c.1977A>C	ENSP00000358052.1:p.Lys659Asn
ENST00000369058.7:c.1977A>C	ENSP00000358054.3:p.Lys659Asn
ENST00000369059.5:c.1632A>C	ENSP00000358055.1:p.Lys544Asn
ENST00000369060.8:c.1626A>C	ENSP00000358056.4:p.Lys542Asn
ENST00000369061.8:c.1638A>C	ENSP00000358057.4:p.Lys546Asn
ENST00000429361.5:c.750A>C	ENSP00000404219.1:p.Lys250Asn
ENST00000457416.6:c.1977A>C	ENSP00000410294.2:p.Lys659Asn
ENST00000478859.5:c.1290A>C	ENSP00000474011.1:p.Lys430Asn
ENST00000604236.5:c.*1021A>C	ENSP00000474109.1:n.*1021A>C
ENST00000613048.4:c.1707A>C	ENSP00000484154.1:p.Lys569Asn
NM_000141.4:c.1974A>C	NP_000132.3:p.Lys658Asn
NM_001144913.1:c.1977A>C	NP_001138385.1:p.Lys659Asn
NM_001144914.1:c.1638A>C	NP_001138386.1:p.Lys546Asn
NM_001144915.1:c.1707A>C	NP_001138387.1:p.Lys569Asn
NM_001144916.1:c.1629A>C	NP_001138388.1:p.Lys543Asn
NM_001144917.1:c.1626A>C	NP_001138389.1:p.Lys542Asn
NM_001144918.1:c.1623A>C	NP_001138390.1:p.Lys541Asn
NM_001144919.1:c.1710A>C	NP_001138391.1:p.Lys570Asn
NM_022970.3:c.1977A>C	NP_075259.4:p.Lys659Asn
NM_023029.2:c.1707A>C	NP_075418.1:p.Lys569Asn
NR_073009.1:n.2424A>C
XM_006717708.2:c.2028A>C	XP_006717771.1:p.Lys676Asn
XM_006717709.2:c.2025A>C	XP_006717772.1:p.Lys675Asn
XM_006717710.2:c.2034A>C	XP_006717773.1:p.Lys678Asn
XM_006717711.2:c.1767A>C	XP_006717774.1:p.Lys589Asn
XM_006717712.2:c.1689A>C	XP_006717775.1:p.Lys563Asn
XM_006717713.2:c.2031A>C	XP_006717776.1:p.Lys677Asn
XM_011539510.1:c.1290A>C	XP_011537812.1:p.Lys430Asn
NM_001320654.1:c.1290A>C	NP_001307583.1:p.Lys430Asn
NM_001320658.1:c.1968A>C	NP_001307587.1:p.Lys656Asn
XM_006717708.3:c.2028A>C	XP_006717771.1:p.Lys676Asn
XM_006717710.4:c.2034A>C	XP_006717773.1:p.Lys678Asn
XM_017015920.2:c.2028A>C	XP_016871409.1:p.Lys676Asn
XM_017015921.2:c.2025A>C	XP_016871410.1:p.Lys675Asn
XM_017015924.2:c.1686A>C	XP_016871413.1:p.Lys562Asn
XM_017015925.2:c.1680A>C	XP_016871414.1:p.Lys560Asn
XM_024447887.1:c.1764A>C	XP_024303655.1:p.Lys588Asn
XM_024447888.1:c.1761A>C	XP_024303656.1:p.Lys587Asn
XM_024447889.1:c.1758A>C	XP_024303657.1:p.Lys586Asn
XM_024447890.1:c.1767A>C	XP_024303658.1:p.Lys589Asn
XM_024447891.1:c.1689A>C	XP_024303659.1:p.Lys563Asn
XM_024447892.1:c.804A>C	XP_024303660.1:p.Lys268Asn
NM_000141.5:c.1974A>C MANE Select	NP_000132.3:p.Lys658Asn
NM_001144917.2:c.1626A>C	NP_001138389.1:p.Lys542Asn
NM_001144918.2:c.1623A>C	NP_001138390.1:p.Lys541Asn
NM_001144919.2:c.1710A>C	NP_001138391.1:p.Lys570Asn
NM_001320658.2:c.1968A>C	NP_001307587.1:p.Lys656Asn
NR_073009.2:n.2410A>C
NM_001144915.2:c.1707A>C	NP_001138387.1:p.Lys569Asn
NM_001144916.2:c.1629A>C	NP_001138388.1:p.Lys543Asn
NM_001320654.2:c.1290A>C	NP_001307583.1:p.Lys430Asn