Canonical Allele Identifier: CA361966380

Gene: CYFIP2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157300769C>T , CM000667.2:g.157300769C>T	GRCh38
NC_000005.9:g.156727777C>T , CM000667.1:g.156727777C>T	GRCh37
NC_000005.8:g.156660355C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698888.1:c.442C>T	ENSP00000514007.1:p.Arg148Cys
ENST00000620254.5:c.442C>T MANE Select	ENSP00000479968.1:p.Arg148Cys
ENST00000435847.6:c.387+3995C>T	ENSP00000403793.3:n.387+3995C>T
ENST00000521420.5:c.364C>T	ENSP00000430904.1:p.Arg122Cys
ENST00000522463.5:c.208-6992C>T	ENSP00000428009.1:n.208-6992C>T
ENST00000522637.5:c.*21C>T	ENSP00000428079.1:n.*21C>T
ENST00000611075.4:c.442C>T	ENSP00000479376.1:p.Arg148Cys
ENST00000611925.4:c.442C>T	ENSP00000478058.1:p.Arg148Cys
ENST00000616178.4:c.442C>T	ENSP00000479719.1:p.Arg148Cys
ENST00000617629.4:c.442C>T	ENSP00000480605.1:p.Arg148Cys
ENST00000618329.4:c.442C>T	ENSP00000484819.1:p.Arg148Cys
ENST00000620254.4:c.442C>T	ENSP00000479968.1:p.Arg148Cys
ENST00000620969.4:c.-1704C>T	ENSP00000483307.1:n.-1704C>T
ENST00000621516.1:c.*274C>T	ENSP00000479211.1:n.*274C>T
ENST00000622696.4:n.525C>T
NM_001037333.2:c.442C>T	NP_001032410.1:p.Arg148Cys
NM_001291721.1:c.364C>T	NP_001278650.1:p.Arg122Cys
NM_001291722.1:c.442C>T	NP_001278651.1:p.Arg148Cys
NM_014376.3:c.442C>T	NP_055191.2:p.Arg148Cys
XM_011534516.1:c.442C>T	XP_011532818.1:p.Arg148Cys
XM_011534517.1:c.229C>T	XP_011532819.1:p.Arg77Cys
XM_011534516.3:c.442C>T	XP_011532818.1:p.Arg148Cys
XM_017009341.1:c.442C>T	XP_016864830.1:p.Arg148Cys
XM_017009342.1:c.229C>T	XP_016864831.1:p.Arg77Cys
XR_001742052.2:n.547C>T
NM_001037333.3:c.442C>T MANE Select	NP_001032410.1:p.Arg148Cys
NM_001291721.2:c.364C>T	NP_001278650.1:p.Arg122Cys
NM_001291722.2:c.442C>T	NP_001278651.1:p.Arg148Cys
NM_014376.4:c.442C>T	NP_055191.2:p.Arg148Cys